Variant Results

or

Results for "RERE"

Variant Events: 70

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

RERE

SP0031271

chr1:
8418972-8418972

G

A

exonic

De novo

nonsynonymous SNV

NM_001042682
NM_001042681
NM_012102

c.C1961T
c.C3623T
c.C3623T

p.A654V
p.A1208V
p.A1208V

12.23

5.52E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

RERE

PN400393

Complex Event; expand row to view variants

Unknown

frameshift deletion

NM_001042682
NM_001042681
NM_012102
NM_001042682
NM_001042681
NM_012102

c.2274_2278del
c.3936_3940del
c.3936_3940del
c.2280_2289del
c.3942_3951del
c.3942_3951del

p.R758fs
p.R1312fs
p.R1312fs
p.I760fs
p.I1314fs
p.I1314fs

-

2.0E-4

Leblond2019 E
Leblond2019 E

RERE

SP0088794

chr1:
8674829-8674829

T

G

intronic

De novo

-

Fu2022 E

RERE

TAS_F5060Y

chr1:
8420088-8420088

C

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

RERE

mAGRE5377

chr1:
8420839-8420839

G

A

exonic

De novo

stopgain

NM_001042682
NM_001042681
NM_012102

c.C1066T
c.C2728T
c.C2728T

p.Q356X
p.Q910X
p.Q910X

37.0

-

Cirnigliaro2023 G

RERE

AU113A

chr1:
8418823-8418823

C

T

exonic

De novo

nonsynonymous SNV

NM_001042682
NM_001042681
NM_012102

c.G2110A
c.G3772A
c.G3772A

p.E704K
p.E1258K
p.E1258K

35.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

RERE

PN400488

Complex Event; expand row to view variants

Unknown

frameshift deletion

NM_001042682
NM_001042681
NM_012102
NM_001042682
NM_001042681
NM_012102

c.2274_2278del
c.3936_3940del
c.3936_3940del
c.2280_2289del
c.3942_3951del
c.3942_3951del

p.R758fs
p.R1312fs
p.R1312fs
p.I760fs
p.I1314fs
p.I1314fs

-

2.0E-4

Leblond2019 E
Leblond2019 E

RERE

2-0016-003

chr1:
8773728-8773728

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

2-0303-004

chr1:
8644667-8644667

T

C

intronic

De novo

-

Yuen2017 G

RERE

2-1299-003

chr1:
8500436-8500436

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

2-1696-003

chr1:
8898375-8898375

T

C

intergenic

De novo

-

Yuen2017 G

RERE

EL002_201

chr1:
8418724-8418724

C

T

exonic

De novo

nonsynonymous SNV

NM_001042682
NM_001042681
NM_012102

c.G2209A
c.G3871A
c.G3871A

p.G737S
p.G1291S
p.G1291S

31.0

-

Fu2022 E

RERE

2-1475-003

chr1:
8595088-8595088

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

SP0034975

chr1:
8716308-8716308

G

A

exonic

De novo

stopgain

NM_001042681
NM_012102

c.C49T
c.C49T

p.R17X
p.R17X

41.0

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

RERE

5-0077-003

chr1:
8617308-8617308

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

2-1689-003

chr1:
8651606-8651606

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

5-5170-003

chr1:
8425419-8425419

G

C

intronic

De novo

-

Trost2022 G

RERE

11440.p1

chr1:
8424902-8424902

G

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

RERE

SP0159611

chr1:
8421011-8421011

G

A

exonic

De novo

synonymous SNV

NM_001042682
NM_001042681
NM_012102

c.C894T
c.C2556T
c.C2556T

p.P298P
p.P852P
p.P852P

-

Trost2022 G

RERE

7-0077-003

chr1:
8616690-8616690

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

PN400261

Complex Event; expand row to view variants

Unknown

frameshift deletion

NM_001042682
NM_001042681
NM_012102
NM_001042682
NM_001042681
NM_012102

c.2280_2289del
c.3942_3951del
c.3942_3951del
c.2274_2278del
c.3936_3940del
c.3936_3940del

p.I760fs
p.I1314fs
p.I1314fs
p.R758fs
p.R1312fs
p.R1312fs

-

2.0E-4

Leblond2019 E
Leblond2019 E

RERE

1-1018-003

chr1:
8528871-8528871

G

A

intronic

De novo

-

Trost2022 G

RERE

SJD_46.3

chr1:
8522347-8522347

T

C

intronic

De novo

-

Trost2022 G

RERE

1-0985-003

chr1:
8574408-8574408

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

SSC02495

chr1:
8424902-8424902

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G

RERE

REACH000233

chr1:
8576333-8576333

C

A

intronic

De novo

-

Trost2022 G

RERE

7-0367-003

chr1:
8549449-8549449

A

T

intronic

De novo

-

Trost2022 G

RERE

2-1359-005

chr1:
8443834-8443834

G

A

intronic

De novo

-

Trost2022 G

RERE

1-0633-003

chr1:
8435629-8435629

C

T

intronic

De novo

-

Trost2022 G

RERE

SJD_49.3

chr1:
8499303-8499309

TCAAAAG

T

intronic

De novo

-

Trost2022 G

RERE

3-0640-000

chr1:
8473815-8473815

T

C

intronic

De novo

-

Trost2022 G

RERE

AC02-1141-01

chr1:
8418233-8418233

A

C

intronic

De novo

-

4.0E-4

Satterstrom2020 E
Trost2022 G

RERE

REACH000214

chr1:
8634538-8634538

G

C

intronic

De novo

-

Trost2022 G

RERE

SJD_54.3

chr1:
8611194-8611194

C

T

intronic

De novo

-

Trost2022 G

RERE

2-0725-003

chr1:
8672806-8672806

A

C

intronic

De novo

-

Trost2022 G

RERE

MT_186.4

chr1:
8647166-8647166

A

T

intronic

De novo

-

Trost2022 G

RERE

REACH000233

chr1:
8576339-8576339

C

A

intronic

De novo

-

Trost2022 G

RERE

REACH000233

chr1:
8576337-8576337

C

A

intronic

De novo

-

Trost2022 G

RERE

MSSNG00064-003

chr1:
8593614-8593614

C

T

intronic

De novo

-

Trost2022 G

RERE

5-5065-003

chr1:
8591158-8591158

A

G

intronic

De novo

-

Trost2022 G

RERE

11572.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G
Turner2016 G

RERE

SP0111569

chr1:
8674833-8674833

T

G

intronic

De novo

-

Trost2022 G

RERE

11194.p1

chr1:
8877668-8877668

T

C

UTR5

De novo

-

Turner2016 G

RERE

SP0081766

chr1:
8674833-8674833

T

G

intronic

De novo

-

Trost2022 G

RERE

1-0649-003

chr1:
8703588-8703588

C

A

intronic

De novo

-

Trost2022 G

RERE

AU2287301

chr1:
8687798-8687798

T

A

intronic

De novo

-

Trost2022 G

RERE

AU2140305

chr1:
8686887-8686887

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

SP0111569

chr1:
8674831-8674831

T

G

intronic

De novo

-

Trost2022 G

RERE

SP0081766

chr1:
8674831-8674831

T

G

intronic

De novo

-

Trost2022 G

RERE

SP0050804

chr1:
8674833-8674833

T

G

intronic

De novo

-

Trost2022 G

RERE

SP0147962

chr1:
8674831-8674831

T

G

intronic

De novo

-

Trost2022 G

RERE

2-0036-003

chr1:
8773728-8773728

G

A

intronic

De novo

-

Yuen2016 G

RERE

1-1155-003

chr1:
8846506-8846506

T

C

intronic

De novo

-

Trost2022 G

RERE

MSSNG00087-003

chr1:
8832804-8832805

CT

C

intronic

De novo

-

Trost2022 G

RERE

4-0088-003

chr1:
8796561-8796561

C

T

intronic

De novo

-

Trost2022 G

RERE

1-0362-003

chr1:
8753934-8753934

T

C

intronic

De novo

-

Trost2022 G

RERE

1-1100-003

chr1:
8808605-8808605

G

C

intronic

De novo

-

Trost2022 G

RERE

1-1100-003

chr1:
8808524-8808524

C

T

intronic

De novo

-

Trost2022 G

RERE

11654.p1

chr1:
8421289-8421289

G

A

exonic

De novo

stopgain

NM_001042682
NM_001042681
NM_012102

c.C616T
c.C2278T
c.C2278T

p.Q206X
p.Q760X
p.Q760X

39.0

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

RERE

2-1176-003

chr1:
8637805-8637805

T

C

intronic

De novo

-

Yuen2017 G

RERE

2-1398-004

chr1:
8614630-8614630

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

1-0551-004

chr1:
8721205-8721205

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

1-0683-004

chr1:
8777135-8777135

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

AU4264302

chr1:
8746002-8746002

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

SSC04312

chr1:
8421289-8421289

G

A

exonic

De novo

stopgain

NM_001042682
NM_001042681
NM_012102

c.C616T
c.C2278T
c.C2278T

p.Q206X
p.Q760X
p.Q760X

39.0

-

Antaki2022 GE
Trost2022 G

RERE

SP0023860

chr1:
8420317-8420318

AC

A

exonic

De novo

frameshift deletion

NM_001042682
NM_001042681
NM_012102

c.1587delG
c.3249delG
c.3249delG

p.G529fs
p.G1083fs
p.G1083fs

-

1.0E-4

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

RERE

AU2793301

chr1:
8516202-8516202

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

1-0464-003

chr1:
8596034-8596034

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

RERE

1-0495-003

chr1:
8885173-8885173

A

G

intergenic

De novo

-

Yuen2017 G

RERE

AU4215302

chr1:
8717224-8717224

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 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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