Variant Results

or

Results for "SRSF11"

Variant Events: 13

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

SRSF11

AU3885304

chr1:
70706408-70706408

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRSF11

1-0067-005

chr1:
70721947-70721951

CCTGA

C

intergenic

De novo

-

Yuen2017 G

SRSF11

DEASD_0233_001

chr1:
70703186-70703187

GA

G

exonic

De novo

frameshift deletion

NM_001190987
NM_004768

c.670delA
c.670delA

p.K224fs
p.K224fs

-

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

SRSF11

1-0173-004

chr1:
70690695-70690695

A

ATACT

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRSF11

70417

chr1:
70697837-70697837

A

G

intronic

De novo

12.62

-

Fu2022 E
Trost2022 G

SRSF11

13171.p1

chr1:
70718947-70718947

G

A

intergenic

De novo

-

Turner2016 G

SRSF11

Lim2017:70417

chr1:
70697837-70697837

A

G

intronic

De novo

12.62

-

Lim2017 E

SRSF11

SP0122295

chr1:
70705170-70705170

G

A

exonic

De novo

nonsynonymous SNV

NM_001190987
NM_004768

c.G767A
c.G767A

p.R256K
p.R256K

21.3

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SRSF11

111305

chr1:
70694181-70694181

C

T

exonic

nonsynonymous SNV

NM_001190987
NM_004768

c.C280T
c.C280T

p.H94Y
p.H94Y

21.9

8.238E-6

Woodbury-Smith2022 E

SRSF11

AU3727302

chr1:
70704319-70704319

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SRSF11

13707.p1

chr1:
70697837-70697837

A

G

intronic

De novo

12.62

-

Satterstrom2020 E
Zhou2022 GE

SRSF11

5-5162-003

chr1:
70678347-70678347

G

C

intronic

De novo

-

Trost2022 G

SRSF11

1-1071-003

chr1:
70672212-70672212

T

C

intronic

De novo

-

Trost2022 G
Trost2022 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
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