Variant Results

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Results for "GOLGA4"

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

GOLGA4

12420.p1

chr3:
37369172-37369172

T

C

exonic

De novo

nonsynonymous SNV

NM_002078
NM_001172713

c.T5795C
c.T5861C

p.L1932S
p.L1954S

15.83

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

GOLGA4

AU3847302

chr3:
37362388-37362388

T

G

intronic

De novo

-

-

Yuen2017 G

GOLGA4

SSC04693

chr3:
37369172-37369172

T

C

exonic

De novo

nonsynonymous SNV

NM_002078
NM_001172713

c.T5795C
c.T5861C

p.L1932S
p.L1954S

15.83

-

Fu2022 E
Lim2017 E

GOLGA4

SP0130974

chr3:
37367457-37367457

A

G

exonic

De novo

synonymous SNV

NM_002078
NM_001172713

c.A4080G
c.A4146G

p.E1360E
p.E1382E

-

-

Fu2022 E

GOLGA4

AU4306302

chr3:
37413021-37413021

A

G

intergenic

De novo

-

-

Yuen2017 G

GOLGA4

1-0261-003

chr3:
37415457-37415457

A

G

intergenic

De novo

-

-

Yuen2017 G

GOLGA4

SP0005574

chr3:
37323412-37323412

A

G

intronic

De novo

-

Fu2022 E

GOLGA4

12653.p1

chr3:
37360735-37360735

C

G

intronic

De novo

-

-

Satterstrom2020 E

GOLGA4

SP0111768

chr3:
37365775-37365776

CT

C

exonic

De novo

frameshift deletion

NM_002078
NM_001172713

c.2399delT
c.2465delT

p.L800fs
p.L822fs

-

-

Fu2022 E

GOLGA4

AU4394302

chr3:
37367412-37367412

G

C

exonic

De novo

nonsynonymous SNV

NM_002078
NM_001172713

c.G4035C
c.G4101C

p.K1345N
p.K1367N

16.02

-

Yuen2017 G

GOLGA4

SP0134901

chr3:
37323554-37323554

A

G

exonic

De novo

nonsynonymous SNV

NM_002078
NM_001172713

c.A268G
c.A334G

p.K90E
p.K112E

28.6

Fu2022 E

GOLGA4

SP0090114

chr3:
37366304-37366304

A

T

exonic

De novo

nonsynonymous SNV

NM_002078
NM_001172713

c.A2927T
c.A2993T

p.D976V
p.D998V

16.02

-

Fu2022 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
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