Variant Results

or

Results for "SRCAP"

Variant Events: 26

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

SRCAP

SP0096706

chr16:
30748849-30748849

T

TG

exonic

De novo

frameshift insertion

NM_006662

c.7488_7489insG

p.S2496fs

-

Fu2022 E

SRCAP

SP0074498

chr16:
30750722-30750722

C

T

exonic

De novo

nonsynonymous SNV

NM_006662

c.C9361T

p.R3121W

9.838

8.256E-6

Fu2022 E

SRCAP

SP0103632

chr16:
30723462-30723462

C

T

exonic

De novo

nonsynonymous SNV

NM_006662

c.C1799T

p.T600M

15.4

-

Fu2022 E

SRCAP

SSC08935

chr16:
30745033-30745044

TGACAGCGACTG

T

exonic

frameshift deletion

NM_006662

c.6409_6419del

p.D2137fs

-

Antaki2022 GE

SRCAP

1-0226-005

chr16:
30740738-30740742

ATGCC

A

exonic

De novo

frameshift deletion

NM_006662

c.5973_5976del

p.H1991fs

-

Yuen2017 G

SRCAP

13857_p1

chr16:
30745033-30745044

TGACAGCGACTG

T

exonic

De novo

frameshift deletion

NM_006662

c.6409_6419del

p.D2137fs

-

Fu2022 E

SRCAP

SP0094887

chr16:
30715612-30715612

C

T

exonic

De novo

synonymous SNV

NM_006662

c.C282T

p.A94A

-

1.695E-5

Fu2022 E

SRCAP

SP0004093

chr16:
30750345-30750345

C

G

exonic

De novo

nonsynonymous SNV

NM_006662

c.C8984G

p.T2995S

7.918

-

Fu2022 E

SRCAP

200675379_1082034622

chr16:
30745076-30745076

C

T

exonic

De novo

nonsynonymous SNV

NM_006662

c.C6451T

p.R2151C

14.66

-

Fu2022 E

SRCAP

131749

chr16:
30749291-30749293

CTG

C

exonic

De novo

frameshift deletion

NM_006662

c.7931_7932del

p.L2644fs

-

Fu2022 E

SRCAP

2-1178-003

chr16:
30719223-30719223

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SRCAP

SSC03520

chr16:
30740437-30740437

G

A

exonic

De novo

nonsynonymous SNV

NM_006662

c.G5809A

p.G1937S

14.31

1.648E-5

Fu2022 E

SRCAP

DEASD_0030_001

chr16:
30747939-30747939

G

C

exonic

De novo

nonsynonymous SNV

NM_006662

c.G7002C

p.Q2334H

8.917

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

SRCAP

215-13132-1493

chr16:
30727385-30727385

A

G

splicing

De novo

splicing

20.9

-

Stessman2017 T
Stessman2017 T

SRCAP

L3C2S

chr16:
30734420-30734421

TC

C

exonic

Inherited

frameshift deletion

NM_006662

c.4029delT

p.N1343fs

-

Stessman2017 T

SRCAP

AU031104

chr16:
30750482-30750482

C

T

exonic

Unknown

stopgain

NM_006662

c.C9121T

p.R3041X

47.0

-

Stessman2017 T

SRCAP

11909.p1

chr16:
30740437-30740437

G

A

exonic

De novo

nonsynonymous SNV

NM_006662

c.G5809A

p.G1937S

14.31

1.648E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SRCAP

13857.p1

chr16:
30745033-30745044

TGACAGCGACTG

T

exonic

De novo

frameshift deletion

NM_006662

c.6409_6419del

p.D2137fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SRCAP

AGG0230

chr16:
30750722-30750722

C

T

exonic

De novo

nonsynonymous SNV

NM_006662

c.C9361T

p.R3121W

9.838

8.256E-6

Fu2022 E
Satterstrom2020 E

SRCAP

08C77155

chr16:
30727385-30727385

A

G

splicing

De novo

splicing

20.9

-

Fu2022 E
Satterstrom2020 E

SRCAP

200675379@1082034622

chr16:
30745076-30745076

C

T

exonic

De novo

nonsynonymous SNV

NM_006662

c.C6451T

p.R2151C

14.66

-

Satterstrom2020 E

SRCAP

AU065807

chr16:
30728670-30728670

C

T

intronic

De novo

-

Yuen2017 G

SRCAP

AU3142302

chr16:
30745227-30745231

ACGGA

ACGGACGGA

exonic

Inherited

frameshift insertion

NM_006662

c.6511_6512insCGGA

p.T2171fs

-

Stessman2017 T

SRCAP

13211.p1

chr16:
30735924-30735924

A

T

exonic

De novo

nonsynonymous SNV

NM_006662

c.A5179T

p.T1727S

12.96

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

SRCAP

EGAN00001101028

chr16:
30736038-30736038

G

C

exonic

De novo

nonsynonymous SNV

NM_006662

c.G5293C

p.A1765P

9.867

-

Fu2022 E
Satterstrom2020 E

SRCAP

SSC06970

chr16:
30735924-30735924

A

T

exonic

De novo

nonsynonymous SNV

NM_006662

c.A5179T

p.T1727S

12.96

-

Fu2022 E
Lim2017 E

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
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