Variant Results

or

or

Results for "SRSF7"

Variant Events: 29

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

SRSF7

31.s1

chr2:
38975221-38975221

C

CC

exonic

De novo

frameshift insertion

NM_001031684
NM_001195446

c.539dupG
c.539dupG

p.R180fs
p.R180fs

-

-

An2014 E

SRSF7

AU3951302

chr2:
39002503-39002524

AAAACAAACAAACAAACAAACA

AAAACAAACAAACA

intergenic

De novo

-

-

Yuen2017 G

SRSF7

SP0040315

chr2:
38976439-38976439

A

T

intronic

De novo

-

-

Trost2022 G

SRSF7

SP0040315

chr2:
38976435-38976435

T

A

intronic

De novo

-

-

Trost2022 G

SRSF7

PN400257

chr2:
38976658-38976663

TTAAAA

T

intronic

Unknown

-

Leblond2019 E

SRSF7

14153.p1

chr2:
38994722-38994722

G

A

intergenic

De novo

-

-

Turner2016 G

SRSF7

7-0106-003

chr2:
38991054-38991054

T

C

intergenic

De novo

-

-

Yuen2017 G

SRSF7

200675762@1082034441

chr2:
38978339-38978339

C

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SRSF7

SP0075777

chr2:
38973228-38973228

A

G

intronic

De novo

-

-

Fu2022 E

SRSF7

PN400312

chr2:
38976658-38976663

TTAAAA

T

intronic

Unknown

-

Leblond2019 E

SRSF7

AU039305

chr2:
38992514-38992514

G

C

intergenic

De novo

-

-

Yuen2017 G

SRSF7

2-1702-004

chr2:
38976121-38976121

G

GC

intronic

De novo

-

-

Yuen2017 G

SRSF7

10-0008-003

chr2:
38972635-38972635

G

A

intronic

De novo

-

-

Trost2022 G

SRSF7

SP0062596

chr2:
38976812-38976812

G

C

exonic

De novo

nonsynonymous SNV

NM_001031684
NM_001195446

c.C245G
c.C245G

p.S82W
p.S82W

22.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SRSF7

3-0515-000

chr2:
38972653-38972654

CA

TG

intronic

De novo

-

-

Trost2022 G

SRSF7

PN400284

chr2:
38976658-38976663

TTAAAA

T

intronic

Unknown

-

Leblond2019 E

SRSF7

2-0219-004

chr2:
38972635-38972635

G

A

intronic

De novo

-

-

Trost2022 G

SRSF7

SP0040315

chr2:
38976212-38976212

T

C

intronic

De novo

-

-

Trost2022 G

SRSF7

2-1605-003

chr2:
38972667-38972667

G

T

intronic

De novo

-

-

Trost2022 G

SRSF7

SP0040315

chr2:
38976405-38976405

T

G

intronic

De novo

-

-

Trost2022 G

SRSF7

PN400501

chr2:
38976658-38976663

TTAAAA

T

intronic

Unknown

-

Leblond2019 E

SRSF7

SP0076358

chr2:
38976212-38976212

T

C

intronic

De novo

-

-

Trost2022 G

SRSF7

2-0305-004

chr2:
38976656-38976656

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SRSF7

PN400261

chr2:
38976658-38976663

TTAAAA

T

intronic

Unknown

-

Leblond2019 E

SRSF7

3-0515-000

chr2:
38972658-38972658

T

G

intronic

De novo

-

-

Trost2022 G

SRSF7

2-1605-003

chr2:
38972653-38972654

CA

TG

intronic

De novo

-

-

Trost2022 G

SRSF7

1-0158-012

chr2:
38972897-38972897

C

CACTAGATAA

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SRSF7

3-0515-000

chr2:
38972667-38972667

G

T

intronic

De novo

-

-

Trost2022 G

SRSF7

2-1605-003

chr2:
38972658-38972658

T

G

intronic

De novo

-

-

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
Curation notes	View
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