Variant Results

or

Results for "SNRNP40"

Variant Events: 12

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

SNRNP40

AU3760302

chr1:
31742779-31742779

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNRNP40

1-0632-003

chr1:
31733721-31733721

A

AAAAG

intronic

De novo

-

Yuen2017 G

SNRNP40

13501.p1

chr1:
31744179-31744179

T

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SNRNP40

1-0591-003

chr1:
31749628-31749628

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNRNP40

AU2793302

chr1:
31767650-31767650

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNRNP40

DEASD_0296_001

chr1:
31754296-31754296

C

A

exonic

De novo

synonymous SNV

NM_004814

c.G579T

p.T193T

-

1.652E-5

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

SNRNP40

2-1195-003

chr1:
31759166-31759166

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SNRNP40

2-1341-003

chr1:
31733536-31733536

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNRNP40

3-0604-000

chr1:
31763633-31763633

G

A

intronic

De novo

-

Trost2022 G

SNRNP40

MSSNG00169-003

chr1:
31740158-31740158

C

T

intronic

De novo

-

Trost2022 G

SNRNP40

1-0720-003

chr1:
31768662-31768662

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SNRNP40

Wang2023:276

chr1:
31769486-31769486

T

C

exonic

De novo

nonsynonymous SNV

NM_004814

c.A113G

p.Q38R

12.58

-

Wang2023 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
Curation notes	View
	More