Variant Results

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Results for "SNAPC4"

Variant Events: 11

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

SNAPC4

mAGRE2449

chr9:
139272893-139272901

GCTGGGGCC

G

exonic

Maternal

frameshift deletion

NM_003086

c.3378_3385del

p.R1126fs

-

Cirnigliaro2023 G

SNAPC4

AU3900301

chr9:
139275162-139275162

T

A

intronic

De novo

-

-

Yuen2017 G

SNAPC4

SP0051072

chr9:
139286393-139286393

C

T

splicing

De novo

splicing

25.6

Fu2022 E
Trost2022 G
Zhou2022 GE

SNAPC4

111302

chr9:
139279214-139279214

C

T

exonic

nonsynonymous SNV

NM_003086

c.G1378A

p.E460K

21.8

Woodbury-Smith2022 E

SNAPC4

SP0096205

chr9:
139282206-139282206

C

T

exonic

De novo

synonymous SNV

NM_003086

c.G1218A

p.P406P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SNAPC4

SP0001953

chr9:
139282935-139282935

G

A

exonic

De novo

stopgain

NM_003086

c.C1084T

p.Q362X

41.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SNAPC4

SP0065656

chr9:
139286615-139286615

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

SNAPC4

2-1567-003

chr9:
139279074-139279074

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SNAPC4

MT_86.3

chr9:
139285412-139285412

G

A

intronic

De novo

-

-

Trost2022 G

SNAPC4

iHART2449

chr9:
139272893-139272901

GCTGGGGCC

G

exonic

Maternal

frameshift deletion

NM_003086

c.3378_3385del

p.R1126fs

-

Ruzzo2019 G

SNAPC4

AU2387301

chr9:
139270265-139270265

A

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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