Variant Results

or

Results for "RIMS1"

Variant Events: 125

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

RIMS1

M10093

chr6:
72975161-72975161

G

A

exonic

Unknown

nonsynonymous SNV

NM_014989

c.G3263A

p.C1088Y

4.466

2.504E-5

Wang2016 T

RIMS1

1-0998-003

chr6:
72772480-72772480

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

Husson2020:122

chr6:
72922926-72922926

G

A

splicing

10.56

-

Husson2020 E

RIMS1

2-1737-003

chr6:
73289658-73289658

G

A

intergenic

De novo

-

Yuen2017 G

RIMS1

AU3712302

chr6:
73073503-73073503

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

09C95446

chr6:
73110360-73110360

C

G

exonic

Unknown

nonsynonymous SNV

NM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989

c.C604G
c.C2398G
c.C2227G
c.C2425G
c.C2983G
c.C5023G

p.R202G
p.R800G
p.R743G
p.R809G
p.R995G
p.R1675G

18.51

8.287E-6

Stessman2017 T

RIMS1

7-0095-004

chr6:
73229345-73229345

A

G

intergenic

De novo

-

Yuen2017 G

RIMS1

AU2988302

chr6:
72762717-72762717

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

09C95447

chr6:
73110360-73110360

C

G

exonic

Unknown

nonsynonymous SNV

NM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989

c.C604G
c.C2398G
c.C2227G
c.C2425G
c.C2983G
c.C5023G

p.R202G
p.R800G
p.R743G
p.R809G
p.R995G
p.R1675G

18.51

8.287E-6

Stessman2017 T

RIMS1

M21695

chr6:
72984083-72984083

C

T

exonic

Paternal

stopgain

NM_014989

c.C3430T

p.R1144X

41.0

2.0E-4

Guo2018 T
Wang2016 T

RIMS1

474-04-100574

chr6:
72943444-72943444

A

G

intronic

De novo

-

8.117E-5

Satterstrom2020 E
Trost2022 G

RIMS1

M12507

chr6:
72678702-72678702

A

G

exonic

Paternal

nonsynonymous SNV

NM_014989

c.A181G

p.M61V

11.26

-

Guo2018 T

RIMS1

2-1366-004

chr6:
72778423-72778423

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

2-0012-004

chr6:
72835640-72835640

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

AU4473301

chr6:
72918474-72918474

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

M04033

chr6:
73000446-73000446

A

A/G

exonic

Paternal

-

Guo2018 T

RIMS1

1-0261-004

chr6:
72893973-72893973

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

AU3861302

chr6:
73003556-73003556

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

M20573

chr6:
72892206-72892206

G

C

exonic

Paternal

nonsynonymous SNV

NM_014989

c.G1032C

p.K344N

14.25

-

Guo2018 T

RIMS1

M16147

chr6:
72926929-72926929

C

T

exonic

Maternal

nonsynonymous SNV

NM_001168410

c.C38T

p.T13I

8.035

-

Guo2018 T
Wang2016 T

RIMS1

SSC06736

chr6:
72889391-72889391

T

TA

exonic

De novo

frameshift insertion

NM_014989

c.586dupA

p.D195fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

RIMS1

M08671

Complex Event; expand row to view variants

Unknown

frameshift deletion, frameshift substitution

NM_001168407
NM_001168409
NM_001168410
NM_014989
NM_001168407
NM_001168409
NM_001168410
NM_014989

c.1664_1665del
c.1424_1425del
c.1622_1623del
c.3521_3522del
c.1663_1665T
c.1423_1425T
c.1621_1623T
c.3520_3522T

p.Q555fs
p.Q475fs
p.Q541fs
p.Q1174fs
N/A
N/A
N/A
N/A

-

Guo2018 T
Wang2016 T

RIMS1

SSC07553

chr6:
73102488-73102488

C

CA

exonic

De novo

frameshift insertion

NM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989

c.176dupA
c.1970dupA
c.1799dupA
c.1997dupA
c.2555dupA
c.4595dupA

p.Q59fs
p.Q657fs
p.Q600fs
p.Q666fs
p.Q852fs
p.Q1532fs

-

Antaki2022 GE
Trost2022 G

RIMS1

2-0068-003

chr6:
73026651-73026651

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

M19770

chr6:
72974696-72974697

TA

A

exonic

Maternal

stopgain

NM_014989

c.3135delT

p.Y1045X

-

Wang2016 T

RIMS1

M20687

chr6:
72974696-72974697

TA

T

exonic

Maternal

frameshift deletion

NM_014989

c.3136delA

p.K1046fs

-

5.0E-4

Wang2016 T

RIMS1

M15002

chr6:
72892838-72892838

G

A

exonic

Paternal

nonsynonymous SNV

NM_014989

c.G1664A

p.S555N

16.6

2.464E-5

Guo2018 T
Wang2016 T

RIMS1

M19761

chr6:
72960069-72960069

A

G

exonic

Paternal

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.A700G
c.A700G
c.A457G
c.A655G
c.A2278G

p.I234V
p.I234V
p.I153V
p.I219V
p.I760V

23.9

-

Guo2018 T
Wang2016 T

RIMS1

AU3874303

chr6:
72690815-72690815

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

1-0494-003

chr6:
72669276-72669276

T

C

intronic

De novo

-

Yuen2017 G

RIMS1

M08757

chr6:
72892536-72892536

T

A/T

exonic

Unknown

-

Guo2018 T

RIMS1

M01493

chr6:
72975162-72975162

C

A

exonic

Unknown, De novo

stopgain

NM_014989

c.C3264A

p.C1088X

37.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

RIMS1

M15139

chr6:
73043394-73043394

C

A

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_014989

c.C2182A
c.C4222A

p.L728M
p.L1408M

22.4

-

Guo2018 T
Wang2016 T

RIMS1

2-1222-003

chr6:
73245028-73245028

A

G

intergenic

De novo

-

Yuen2017 G

RIMS1

AU2988303

chr6:
72762717-72762717

G

A

intronic

De novo

-

Yuen2017 G

RIMS1

2-0002-005

chr6:
72596396-72596396

G

A

upstream

De novo

-

Yuen2017 G

RIMS1

2-0278-003

chr6:
72598386-72598386

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

M12434

chr6:
72967964-72967964

A

T

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.A1326T
c.A1329T
c.A1086T
c.A1284T
c.A2907T

p.L442F
p.L443F
p.L362F
p.L428F
p.L969F

17.87

-

Guo2018 T
Wang2016 T

RIMS1

M12516

chr6:
72596754-72596754

C

T

exonic

Unknown

nonsynonymous SNV

NM_014989

c.C28T

p.P10S

20.2

3.0E-4

Wang2016 T

RIMS1

M10159

chr6:
72960957-72960957

C

T

exonic

Unknown

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.C1006T
c.C1006T
c.C763T
c.C961T
c.C2584T

p.P336S
p.P336S
p.P255S
p.P321S
p.P862S

20.9

-

Wang2016 T

RIMS1

M08509

chr6:
72596755-72596755

C

G

exonic

Maternal

nonsynonymous SNV

NM_014989

c.C29G

p.P10R

17.41

8.92E-6

Guo2018 T

RIMS1

M19770

chr6:
72945375-72945375

A

T

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168410
NM_014989

c.A223T
c.A223T
c.A178T
c.A1801T

p.I75F
p.I75F
p.I60F
p.I601F

26.2

-

Guo2018 T
Wang2016 T

RIMS1

M12403

chr6:
73100399-73100399

C

A

exonic

Paternal

nonsynonymous SNV

NM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989

c.C47A
c.C1841A
c.C1670A
c.C1868A
c.C2426A
c.C4466A

p.S16Y
p.S614Y
p.S557Y
p.S623Y
p.S809Y
p.S1489Y

20.5

-

Guo2018 T
Wang2016 T

RIMS1

M27809

chr6:
72892536-72892536

T

A

exonic

Maternal, Unknown

nonsynonymous SNV

NM_014989

c.T1362A

p.H454Q

7.91

-

Guo2018 T
Wang2016 T

RIMS1

13316.p1

chr6:
72952021-72952021

T

C

exonic

De novo

synonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.T384C
c.T384C
c.T141C
c.T339C
c.T1962C

p.D128D
p.D128D
p.D47D
p.D113D
p.D654D

5.409

-

Satterstrom2020 E

RIMS1

2-1373-003

chr6:
73016411-73016411

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

RIMS1

M04053

chr6:
72974707-72974707

C

C/T

exonic

Maternal

-

Guo2018 T

RIMS1

M15248

chr6:
73023290-73023290

G

T

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_014989

c.G2005T
c.G4045T

p.A669S
p.A1349S

32.0

-

Guo2018 T

RIMS1

M19661

chr6:
72892249-72892249

C

A

exonic

Maternal

nonsynonymous SNV

NM_014989

c.C1075A

p.P359T

22.3

-

Guo2018 T

RIMS1

7-0127-003

chr6:
72801528-72801528

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

SSC07467

chr6:
72952021-72952021

T

C

exonic

De novo

synonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.T384C
c.T384C
c.T141C
c.T339C
c.T1962C

p.D128D
p.D128D
p.D47D
p.D113D
p.D654D

5.409

-

Fu2022 E
Trost2022 G

RIMS1

13497.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989

c.176dupA
c.1970dupA
c.1799dupA
c.1997dupA
c.2555dupA
c.4595dupA

p.Q59fs
p.Q657fs
p.Q600fs
p.Q666fs
p.Q852fs
p.Q1532fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RIMS1

13162.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_014989
NM_014989

c.586dupA
c.586dupA

p.D195fs
p.T196fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

RIMS1

3-0185-000

chr6:
72864735-72864735

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

AU4056301

chr6:
73030703-73030703

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

2-0272-003

chr6:
73066276-73066276

C

CATGATGAAACCCCATCTCTACTAAATGTAG

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

1-0469-005

chr6:
73094595-73094595

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

2-1627-003

chr6:
73079061-73079061

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

5-0074-003

chr6:
72789916-72789916

G

A

intronic

De novo

-

Yuen2017 G

RIMS1

AU4476302

chr6:
73301174-73301174

T

C

intergenic

De novo

-

Yuen2017 G

RIMS1

M15013

chr6:
72596754-72596754

C

T

exonic

Paternal

nonsynonymous SNV

NM_014989

c.C28T

p.P10S

20.2

3.0E-4

Wang2016 T

RIMS1

PN400281

chr6:
72892264-72892265

TA

T

exonic

Unknown

frameshift deletion

NM_014989

c.1091delA

p.Y364fs

-

Leblond2019 E

RIMS1

M30928

chr6:
72962473-72962473

G

A

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.G1130A
c.G1130A
c.G887A
c.G1085A
c.G2708A

p.R377Q
p.R377Q
p.R296Q
p.R362Q
p.R903Q

32.0

-

Guo2018 T

RIMS1

D3P6H

chr6:
72892579-72892580

CC

CCC

exonic

Inherited

frameshift insertion

NM_014989

c.1406dupC

p.P469fs

-

Stessman2017 T

RIMS1

1-0068-003

chr6:
72599005-72599005

A

G

intronic

De novo

-

Yuen2017 G

RIMS1

M8509

chr6:
72596755-72596755

C

G

exonic

Maternal

nonsynonymous SNV

NM_014989

c.C29G

p.P10R

17.41

8.92E-6

Wang2016 T

RIMS1

GX0245.p1

chr6:
72892217-72892217

A

G

exonic

Paternal

nonsynonymous SNV

NM_014989

c.A1043G

p.E348G

18.21

-

Guo2018 T

RIMS1

GX0034.p1

chr6:
73000404-73000404

A

G

exonic

De novo

nonsynonymous SNV

NM_014989

c.A3577G

p.R1193G

21.9

-

Guo2018 T

RIMS1

10-1019-003

chr6:
72690807-72690807

T

A

intronic

De novo

-

Trost2022 G

RIMS1

MSSNG00421-008

chr6:
72739167-72739167

A

G

intronic

De novo

-

Trost2022 G

RIMS1

AU2950301

chr6:
72670596-72670597

GA

G

intronic

De novo

-

Trost2022 G

RIMS1

10-1019-003

chr6:
72689935-72689935

C

T

intronic

De novo

-

Trost2022 G

RIMS1

1-0300-003

chr6:
72736563-72736563

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

HN0027.p1

chr6:
72926893-72926893

T

C/T

exonic

Paternal

-

Guo2018 T

RIMS1

7-0322-003

chr6:
72655644-72655644

G

A

intronic

De novo

-

Trost2022 G

RIMS1

M30943

chr6:
72926893-72926893

T

C

exonic

Paternal

nonsynonymous SNV

NM_001168410

c.T2C

p.M1T

10.1

-

Guo2018 T

RIMS1

MSSNG00335-003

chr6:
72661236-72661236

C

G

intronic

De novo

-

Trost2022 G

RIMS1

GX0255.p1

chr6:
72993800-72993800

G

T

exonic

Paternal

nonsynonymous SNV

NM_001168407
NM_001168409
NM_001168410
NM_014989

c.G1676T
c.G1436T
c.G1634T
c.G3533T

p.G559V
p.G479V
p.G545V
p.G1178V

10.02

-

Guo2018 T

RIMS1

GX0291.p1

chr6:
72957765-72957765

G

A

exonic

Paternal

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.G598A
c.G598A
c.G355A
c.G553A
c.G2176A

p.V200I
p.V200I
p.V119I
p.V185I
p.V726I

26.1

3.316E-5

Guo2018 T

RIMS1

4-0096-003

chr6:
72637762-72637762

G

A

intronic

De novo

-

Trost2022 G

RIMS1

2-1762-003

chr6:
72887611-72887611

T

C

intronic

De novo

-

Trost2022 G

RIMS1

1008

chr6:
72891429-72891429

G

A

intronic

De novo

-

Trost2022 G

RIMS1

H7P2H

chr6:
73100420-73100420

G

A

exonic

Inherited

nonsynonymous SNV

NM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989

c.G68A
c.G1862A
c.G1691A
c.G1889A
c.G2447A
c.G4487A

p.S23N
p.S621N
p.S564N
p.S630N
p.S816N
p.S1496N

32.0

8.294E-6

Stessman2017 T

RIMS1

10-1155-003

chr6:
72860967-72860967

G

A

intronic

De novo

-

Trost2022 G

RIMS1

5-1007-003

chr6:
72861258-72861258

G

T

intronic

De novo

-

Trost2022 G

RIMS1

MSSNG00367-003

chr6:
72825248-72825248

A

G

intronic

De novo

-

Trost2022 G

RIMS1

M12504

chr6:
73023290-73023290

G

T

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_014989

c.G2005T
c.G4045T

p.A669S
p.A1349S

32.0

-

Guo2018 T
Wang2016 T

RIMS1

4-0062-003

chr6:
72858317-72858318

AT

TC

intronic

De novo

-

Trost2022 G

RIMS1

2-1458-003

chr6:
72801494-72801494

T

GTGGA

intronic

De novo

-

Trost2022 G

RIMS1

1-1183-003

chr6:
72807868-72807868

A

G

intronic

De novo

-

Trost2022 G

RIMS1

2-1302-003

chr6:
72756246-72756246

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

5-5065-003

chr6:
73108990-73108990

A

G

intronic

De novo

-

Trost2022 G

RIMS1

AU2320301

chr6:
73069946-73069946

G

A

intronic

De novo

-

Trost2022 G

RIMS1

2-1091-003

chr6:
73070648-73070648

T

A

intronic

De novo

-

Trost2022 G

RIMS1

1-0494-003A

chr6:
72669276-72669276

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

10-1155-003

chr6:
72995857-72995857

G

A

intronic

De novo

-

Trost2022 G

RIMS1

MSSNG00364-003

chr6:
73041388-73041388

G

A

intronic

De novo

-

Trost2022 G

RIMS1

5-5162-003

chr6:
72941922-72941922

C

T

intronic

De novo

-

Trost2022 G

RIMS1

M12510

chr6:
73023281-73023281

G

T

exonic

Maternal, Unknown

nonsynonymous SNV

NM_001168407
NM_014989

c.G1996T
c.G4036T

p.D666Y
p.D1346Y

25.7

-

Guo2018 T
Stessman2017 T
Wang2016 T

RIMS1

7-0429-003

chr6:
72965013-72965013

G

A

intronic

De novo

-

Trost2022 G

RIMS1

M17558

chr6:
72984117-72984117

C

G

exonic

Paternal

nonsynonymous SNV

NM_014989

c.C3464G

p.A1155G

13.24

-

Guo2018 T
Wang2016 T

RIMS1

7-0035-003

chr6:
72901192-72901192

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

2-1315-003

chr6:
72779917-72779917

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

RIMS1

12076.p1

chr6:
73121773-73121773

T

C

intergenic

Mosaic

-

Dou2017 E

RIMS1

M19735

chr6:
72892155-72892155

C

G

exonic

Maternal

stopgain

NM_014989

c.C981G

p.Y327X

14.71

-

Guo2018 T
Stessman2017 T
Wang2016 T

RIMS1

M23785

chr6:
72967953-72967953

C

T

exonic

Maternal, Unknown

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.C1315T
c.C1318T
c.C1075T
c.C1273T
c.C2896T

p.R439C
p.R440C
p.R359C
p.R425C
p.R966C

23.7

8.412E-6

Guo2018 T
Stessman2017 T
Wang2016 T

RIMS1

1-0490-003

chr6:
73193293-73193293

G

A

intergenic

De novo

-

Yuen2017 G

RIMS1

AU3801301

chr6:
72632221-72632221

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

PN400297

chr6:
72970442-72970442

C

T

exonic

Unknown

stopgain

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.C1507T
c.C1510T
c.C1267T
c.C1465T
c.C3088T

p.R503X
p.R504X
p.R423X
p.R489X
p.R1030X

45.0

-

Leblond2019 E

RIMS1

217-14291-4120

chr6:
73017033-73017033

C

A

exonic

Unknown

nonsynonymous SNV

NM_001168407
NM_014989

c.C1883A
c.C3923A

p.S628Y
p.S1308Y

24.8

1.0E-4

Stessman2017 T

RIMS1

M32001

chr6:
72968735-72968735

A

G

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.A1393G
c.A1396G
c.A1153G
c.A1351G
c.A2974G

p.R465G
p.R466G
p.R385G
p.R451G
p.R992G

11.09

-

Guo2018 T

RIMS1

SP0039518

chr6:
72952039-72952039

T

C

exonic

De novo

synonymous SNV

NM_001168407
NM_001168408
NM_001168409
NM_001168410
NM_014989

c.T402C
c.T402C
c.T159C
c.T357C
c.T1980C

p.N134N
p.N134N
p.N53N
p.N119N
p.N660N

5.365

-

Fu2022 E
Trost2022 G
Zhou2022 GE

RIMS1

05C40021

chr6:
73110213-73110213

G

T

exonic

Unknown

nonsynonymous SNV

NM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989

c.G457T
c.G2251T
c.G2080T
c.G2278T
c.G2836T
c.G4876T

p.D153Y
p.D751Y
p.D694Y
p.D760Y
p.D946Y
p.D1626Y

24.0

8.289E-6

Stessman2017 T

RIMS1

GX0195.p1

chr6:
73043331-73043331

C

T

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_014989

c.C2119T
c.C4159T

p.R707W
p.R1387W

28.3

3.0E-4

Guo2018 T

RIMS1

GX0042.p1

chr6:
72993800-72993800

G

T

exonic

Maternal

nonsynonymous SNV

NM_001168407
NM_001168409
NM_001168410
NM_014989

c.G1676T
c.G1436T
c.G1634T
c.G3533T

p.G559V
p.G479V
p.G545V
p.G1178V

10.02

-

Guo2018 T

RIMS1

1-0329-004

chr6:
73005159-73005159

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

05C48492

chr6:
73017056-73017056

C

T

exonic

Unknown

nonsynonymous SNV

NM_001168407
NM_014989

c.C1906T
c.C3946T

p.R636C
p.R1316C

24.4

3.46E-5

Stessman2017 T

RIMS1

05C48975

chr6:
72596749-72596749

G

A

exonic

Unknown

nonsynonymous SNV

NM_014989

c.G23A

p.R8H

26.1

-

Stessman2017 T

RIMS1

M18402

chr6:
72975161-72975161

G

A

exonic

Maternal

nonsynonymous SNV

NM_014989

c.G3263A

p.C1088Y

4.466

2.504E-5

Wang2016 T

RIMS1

M20652

chr6:
72975161-72975161

G

A

exonic

Maternal

nonsynonymous SNV

NM_014989

c.G3263A

p.C1088Y

4.466

2.504E-5

Wang2016 T

RIMS1

M19577

chr6:
72889552-72889552

A

G

exonic

Maternal

nonsynonymous SNV

NM_014989

c.A746G

p.Q249R

6.495

-

Guo2018 T
Wang2016 T

RIMS1

1-0473-003

chr6:
72765676-72765676

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RIMS1

13660.p1

chr6:
72961341-72961341

G

C

intronic

De novo

-

Wilfert2021 G

RIMS1

13143.p1

chr6:
72893503-72893503

T

C

intronic

De novo

-

Wilfert2021 G

RIMS1

mAGRE5523

chr6:
72984083-72984083

C

T

exonic

Paternal

stopgain

NM_014989

c.C3430T

p.R1144X

41.0

2.0E-4

Cirnigliaro2023 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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