Variant Results

or

Results for "UNC80"

Variant Events: 71

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

UNC80

13405.p1

chr2:
210684002-210684002

T

C

intronic

De novo

-

Krumm2015 E
Satterstrom2020 E

UNC80

12463.p1

chr2:
210745771-210745771

C

T

exonic

De novo

stopgain

NM_032504
NM_182587

c.C4069T
c.C4054T

p.R1357X
p.R1352X

44.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

UNC80

110198-100

chr2:
210714270-210714270

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C3556T
c.C3541T

p.R1186C
p.R1181C

22.1

4.608E-5

Stessman2017 T

UNC80

M30343

chr2:
210858135-210858135

A

G

exonic

Maternal

nonsynonymous SNV

NM_182587
NM_032504

c.A9223G
c.A9295G

p.K3075E
p.K3099E

31.0

4.594E-5

Guo2018 T

UNC80

M19547

chr2:
210707072-210707072

A

T

splicing

Paternal

splicing

17.1

-

Guo2018 T
Stessman2017 T
Wang2016 T

UNC80

MSSNG00098-003

chr2:
210767533-210767537

TAGAA

T

intronic

De novo

-

Trost2022 G

UNC80

Stessman2017:ASD_1361

chr2:
210840875-210840875

C

T

exonic

Inherited

stopgain

NM_032504
NM_182587

c.C8422T
c.C8407T

p.Q2808X
p.Q2803X

50.0

-

Stessman2017 T

UNC80

2-1547-003

chr2:
210777225-210777225

G

A

intronic

De novo

-

Trost2022 G

UNC80

MSSNG00421-009

chr2:
210709248-210709248

C

T

intronic

De novo

-

Trost2022 G

UNC80

MSSNG00124-003

chr2:
210758634-210758634

T

C

intronic

De novo

-

Trost2022 G

UNC80

M23700

chr2:
210752840-210752840

C

T

exonic

Paternal

nonsynonymous SNV

NM_032504
NM_182587

c.C4138T
c.C4123T

p.R1380C
p.R1375C

32.0

-

Guo2018 T
Wang2016 T

UNC80

SP0159265

chr2:
210683941-210683941

G

A

exonic

De novo

nonsynonymous SNV

NM_032504
NM_182587

c.G1918A
c.G1918A

p.G640R
p.G640R

32.0

-

Trost2022 G

UNC80

M08596

chr2:
210802287-210802287

C

T

exonic

Paternal

nonsynonymous SNV

NM_032504
NM_182587

c.C6200T
c.C6185T

p.S2067L
p.S2062L

34.0

-

Guo2018 T
Wang2016 T

UNC80

SSC07506

chr2:
210684002-210684002

T

C

intronic

De novo

-

Trost2022 G

UNC80

MSSNG00062-003

chr2:
210637121-210637121

A

G

intronic

De novo

-

Trost2022 G

UNC80

REACH000686

chr2:
210674800-210674800

G

A

intronic

De novo

-

Trost2022 G

UNC80

M27889

chr2:
210840974-210840974

G

A

exonic

Maternal

nonsynonymous SNV

NM_032504
NM_182587

c.G8521A
c.G8506A

p.V2841M
p.V2836M

34.0

-

Guo2018 T
Wang2016 T

UNC80

SP0146130

chr2:
210841891-210841891

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

UNC80

Wang2023:630

chr2:
210832223-210832223

G

T

exonic

De novo

nonsynonymous SNV

NM_032504
NM_182587

c.G7670T
c.G7655T

p.S2557I
p.S2552I

28.1

-

Wang2023 E

UNC80

M12443

chr2:
210843331-210843331

G

A

exonic

Maternal

nonsynonymous SNV

NM_032504
NM_182587

c.G8819A
c.G8804A

p.R2940H
p.R2935H

35.0

4.629E-5

Guo2018 T
Wang2016 T

UNC80

SP0013677

chr2:
210810004-210810004

A

ACG

intronic

De novo

-

Fu2022 E

UNC80

214-17058-1

chr2:
210835658-210835658

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C8035T
c.C8020T

p.R2679W
p.R2674W

16.53

2.0E-4

Stessman2017 T

UNC80

2-1594-003

chr2:
210766958-210766958

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC80

SP0003981

chr2:
210858974-210858974

G

A

exonic

De novo

nonsynonymous SNV

NM_182587
NM_032504

c.G9424A
c.G9496A

p.V3142M
p.V3166M

13.09

-

Trost2022 G

UNC80

MT_186.4

chr2:
210801721-210801721

G

A

intronic

De novo

-

Trost2022 G

UNC80

AU005213

chr2:
210791693-210791693

G

A

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.G5591A
c.G5576A

p.R1864Q
p.R1859Q

29.5

4.406E-5

Stessman2017 T

UNC80

AU004403

chr2:
210857278-210857278

T

G

intronic

De novo

-

Trost2022 G

UNC80

215-13023-0303

chr2:
210681762-210681762

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C1465T
c.C1465T

p.R489C
p.R489C

26.9

4.615E-5

Stessman2017 T

UNC80

5-0095-003

chr2:
210727234-210727234

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC80

AU024104

chr2:
210663690-210663690

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC80

M20766

chr2:
210858118-210858118

G

A

exonic

Maternal

nonsynonymous SNV

NM_182587
NM_032504

c.G9206A
c.G9278A

p.R3069H
p.R3093H

34.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

UNC80

M18352

chr2:
210761043-210761043

G

A

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.G4289A
c.G4274A

p.S1430N
p.S1425N

33.0

-

Guo2018 T
Wang2016 T

UNC80

CC1082.204

chr2:
210786227-210786228

TC

T

exonic

De novo

frameshift deletion

NM_032504
NM_182587

c.5150delC
c.5135delC

p.S1717fs
p.S1712fs

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UNC80

1-0320-004

chr2:
210674237-210674237

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC80

SSC04780

chr2:
210745771-210745771

C

T

exonic

De novo

stopgain

NM_032504
NM_182587

c.C4069T
c.C4054T

p.R1357X
p.R1352X

44.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

UNC80

M5L6A

chr2:
210808218-210808218

G

A

exonic

Inherited

nonsynonymous SNV

NM_032504
NM_182587

c.G6832A
c.G6817A

p.A2278T
p.A2273T

33.0

-

Stessman2017 T

UNC80

215-13190-2073

chr2:
210843346-210843346

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C8834T
c.C8819T

p.T2945M
p.T2940M

27.0

-

Stessman2017 T

UNC80

SSC10614

chr2:
210824419-210824419

A

C

exonic

De novo

nonsynonymous SNV

NM_032504
NM_182587

c.A7595C
c.A7580C

p.K2532T
p.K2527T

26.3

-

Fu2022 E
Lim2017 E
Trost2022 G

UNC80

12820.p1

chr2:
210674074-210674074

T

C

intronic

Mosaic Pat.

-

Dou2017 E

UNC80

03C16223

chr2:
210681811-210681811

G

A

exonic

Inherited

nonsynonymous SNV

NM_032504
NM_182587

c.G1514A
c.G1514A

p.R505Q
p.R505Q

35.0

-

Stessman2017 T

UNC80

GX0185.p1

chr2:
210858989-210858989

G

A

splicing

Unknown

splicing

17.31

-

Guo2018 T

UNC80

SP0032476

chr2:
210696276-210696276

C

A

exonic

De novo

stopgain

NM_032504
NM_182587

c.C2736A
c.C2721A

p.C912X
p.C907X

42.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

UNC80

PN400457

chr2:
210704065-210704065

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C3161T
c.C3146T

p.T1054M
p.T1049M

31.0

-

Leblond2019 E

UNC80

CC1082_204

chr2:
210786227-210786228

TC

T

exonic

De novo

frameshift deletion

NM_032504
NM_182587

c.5150delC
c.5135delC

p.S1717fs
p.S1712fs

-

Fu2022 E

UNC80

03C16252

chr2:
210681811-210681811

G

A

exonic

Inherited

nonsynonymous SNV

NM_032504
NM_182587

c.G1514A
c.G1514A

p.R505Q
p.R505Q

35.0

-

Stessman2017 T

UNC80

M32286

chr2:
210761043-210761043

G

A

exonic

Paternal

nonsynonymous SNV

NM_032504
NM_182587

c.G4289A
c.G4274A

p.S1430N
p.S1425N

33.0

-

Guo2018 T

UNC80

HN0078.p1

chr2:
210650826-210650826

G

A

exonic

Paternal

nonsynonymous SNV

NM_032504
NM_182587

c.G637A
c.G637A

p.V213I
p.V213I

35.0

-

Guo2018 T

UNC80

R3C2B

chr2:
210832237-210832237

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C7684T
c.C7669T

p.R2562C
p.R2557C

26.6

4.803E-5

Stessman2017 T

UNC80

M17682

chr2:
210806049-210806049

G

A

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.G6553A
c.G6538A

p.E2185K
p.E2180K

23.9

4.644E-5

Stessman2017 T

UNC80

2-0272-004

chr2:
210677193-210677196

TAAG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UNC80

03C16992

chr2:
210783332-210783332

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C5090T
c.C5075T

p.P1697L
p.P1692L

26.5

-

Stessman2017 T

UNC80

Chen2021:76

chr2:
210856889-210856889

G

C

splicing

Maternal

splicing

20.8

-

Chen2021 GET

UNC80

Z3D2S

chr2:
210787062-210787062

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C5419T
c.C5404T

p.R1807C
p.R1802C

28.0

-

Stessman2017 T

UNC80

Chen2021:76

chr2:
210682550-210682550

C

T

exonic

Paternal

stopgain

NM_032504
NM_182587

c.C1567T
c.C1567T

p.R523X
p.R523X

39.0

-

Chen2021 GET

UNC80

M20652

chr2:
210783326-210783326

A

G

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.A5084G
c.A5069G

p.D1695G
p.D1690G

25.7

4.398E-5

Stessman2017 T

UNC80

M16067

chr2:
210737525-210737525

C

A

exonic

Maternal

nonsynonymous SNV

NM_032504
NM_182587

c.C3677A
c.C3662A

p.A1226D
p.A1221D

35.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

UNC80

13651.p1

chr2:
210691362-210691362

G

A

intronic

De novo

-

Wilfert2021 G

UNC80

M18393

chr2:
210782618-210782618

C

G

exonic

Paternal

nonsynonymous SNV

NM_032504
NM_182587

c.C4949G
c.C4934G

p.T1650R
p.T1645R

33.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

UNC80

GX0047.p1

chr2:
210782618-210782618

C

G

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C4949G
c.C4934G

p.T1650R
p.T1645R

33.0

-

Guo2018 T

UNC80

AU1423304

chr2:
210810654-210810654

G

A

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.G7075A
c.G7060A

p.E2359K
p.E2354K

22.1

-

Stessman2017 T

UNC80

M19602

chr2:
210704053-210704053

C

T

exonic

Maternal

nonsynonymous SNV

NM_032504
NM_182587

c.C3149T
c.C3134T

p.T1050I
p.T1045I

32.0

4.555E-5

Wang2016 T

UNC80

M15212

chr2:
210745765-210745765

T

C

exonic

Paternal

nonsynonymous SNV

NM_032504
NM_182587

c.T4063C
c.T4048C

p.F1355L
p.F1350L

36.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

UNC80

2-1352-003

chr2:
210670452-210670452

C

T

intronic

De novo

-

Yuen2016 G

UNC80

M02733

chr2:
210761064-210761064

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C4310T
c.C4295T

p.P1437L
p.P1432L

32.0

-

Guo2018 T
Wang2016 T

UNC80

2-1184-003

chr2:
210863874-210863874

T

G

UTR3

De novo

-

Yuen2017 G

UNC80

M15079

chr2:
210802262-210802262

C

T

exonic

Unknown

stopgain

NM_032504
NM_182587

c.C6175T
c.C6160T

p.R2059X
p.R2054X

48.0

-

Guo2018 T
Wang2016 T

UNC80

14120.p1

chr2:
210824419-210824419

A

C

exonic

De novo

nonsynonymous SNV

NM_032504
NM_182587

c.A7595C
c.A7580C

p.K2532T
p.K2527T

26.3

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

UNC80

M21477

chr2:
210791708-210791708

C

G

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C5606G
c.C5591G

p.A1869G
p.A1864G

31.0

-

Guo2018 T
Wang2016 T

UNC80

GX0029.p1

chr2:
210699694-210699694

C

T

exonic

Maternal

nonsynonymous SNV

NM_032504
NM_182587

c.C3001T
c.C2986T

p.R1001C
p.R996C

32.0

-

Guo2018 T

UNC80

GX0521.p1

chr2:
210681738-210681738

G

A

exonic

Maternal

nonsynonymous SNV

NM_032504
NM_182587

c.G1441A
c.G1441A

p.D481N
p.D481N

35.0

-

Guo2018 T

UNC80

220-9830-202

chr2:
210680059-210680059

C

T

exonic

Unknown

nonsynonymous SNV

NM_032504
NM_182587

c.C1279T
c.C1279T

p.R427C
p.R427C

21.3

-

Stessman2017 T

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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