Variant Results

or

or

Results for "GOLGA3"

Variant Events: 19

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

GOLGA3

2-0303-004

chr12:
133354668-133354668

A

G

intronic

De novo

-

-

Yuen2017 G

GOLGA3

iHART2397

chr12:
133357485-133357485

G

A

exonic

Maternal

stopgain

NM_005895

c.C3481T

p.Q1161X

46.0

-

Ruzzo2019 G

GOLGA3

1550-22157

chr12:
133353255-133353256

TG

T

exonic

frameshift deletion

NM_005895

c.3942delC

p.G1314fs

-

-

Callaghan2019 G

GOLGA3

iHART2700

chr12:
133358892-133358900

AACTGGACT

A

exonic

Maternal

frameshift deletion

NM_005895

c.3447_3454del

p.L1149fs

-

-

Ruzzo2019 G

GOLGA3

PN400103

chr12:
133378465-133378465

G

A

exonic

Unknown

nonsynonymous SNV

NM_001172557
NM_005895

c.C1688T
c.C1688T

p.A563V
p.A563V

23.2

Leblond2019 E

GOLGA3

PN400257

chr12:
133378465-133378465

G

A

exonic

Unknown

nonsynonymous SNV

NM_001172557
NM_005895

c.C1688T
c.C1688T

p.A563V
p.A563V

23.2

Leblond2019 E

GOLGA3

AU066104

chr12:
133367241-133367241

G

A

intronic

De novo

-

-

Yuen2017 G

GOLGA3

1-0294-003

chr12:
133402484-133402484

C

G

intronic

De novo

-

-

Yuen2017 G

GOLGA3

11733_p1

chr12:
133381371-133381371

C

G

exonic

De novo

nonsynonymous SNV

NM_001172557
NM_005895

c.G1528C
c.G1528C

p.E510Q
p.E510Q

19.62

-

Fu2022 E

GOLGA3

1-0294-003

chr12:
133402438-133402438

C

T

intronic

De novo

-

-

Yuen2017 G

GOLGA3

1-0043-003

chr12:
133358969-133358969

C

A

exonic

De novo

nonsynonymous SNV

NM_005895

c.G3378T

p.Q1126H

15.38

-

Yuen2017 G

GOLGA3

1-0294-003

chr12:
133402430-133402430

A

G

intronic

De novo

-

-

Yuen2017 G

GOLGA3

2-1522-003

chr12:
133372392-133372392

G

A

intronic

De novo

-

-

Yuen2017 G

GOLGA3

PN400341

chr12:
133378465-133378465

G

A

exonic

Unknown

nonsynonymous SNV

NM_001172557
NM_005895

c.C1688T
c.C1688T

p.A563V
p.A563V

23.2

Leblond2019 E

GOLGA3

11733.p1

chr12:
133381371-133381371

C

G

exonic

De novo

nonsynonymous SNV

NM_001172557
NM_005895

c.G1528C
c.G1528C

p.E510Q
p.E510Q

19.62

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Sanders2012 E
Wilfert2021 G

GOLGA3

PN400119

chr12:
133378465-133378465

G

A

exonic

Unknown

nonsynonymous SNV

NM_001172557
NM_005895

c.C1688T
c.C1688T

p.A563V
p.A563V

23.2

Leblond2019 E

GOLGA3

147-06-105672

chr12:
133357540-133357540

G

A

intronic

De novo

-

Satterstrom2020 E

GOLGA3

PN400282

chr12:
133378465-133378465

G

A

exonic

Unknown

nonsynonymous SNV

NM_001172557
NM_005895

c.C1688T
c.C1688T

p.A563V
p.A563V

23.2

Leblond2019 E

GOLGA3

AU071204

chr12:
133393296-133393296

G

A

exonic

De novo

nonsynonymous SNV

NM_001172557
NM_005895

c.C236T
c.C236T

p.P79L
p.P79L

11.74

Yuen2017 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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