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Results for "GOLGA3"

Variant Events: 18

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     2-0303-004chr12:
133354668-133354668
AGintronicDe novo--Yuen2017 G
GOLGA3     iHART2397chr12:
133357485-133357485
GAexonicMaternalstopgainNM_005895c.C3481Tp.Q1161X46.0-Ruzzo2019 G
GOLGA3     1550-22157chr12:
133353255-133353256
TGTexonicframeshift deletionNM_005895c.3942delCp.G1314fs--Callaghan2019 G
GOLGA3     iHART2700chr12:
133358892-133358900
AACTGGACTAexonicMaternalframeshift deletionNM_005895c.3447_3454delp.L1149fs--Ruzzo2019 G
GOLGA3     PN400103chr12:
133378465-133378465
GAexonicUnknownnonsynonymous SNVNM_001172557
NM_005895
c.C1688T
c.C1688T
p.A563V
p.A563V
23.20.0062Leblond2019 E
GOLGA3     PN400257chr12:
133378465-133378465
GAexonicUnknownnonsynonymous SNVNM_001172557
NM_005895
c.C1688T
c.C1688T
p.A563V
p.A563V
23.20.0062Leblond2019 E
GOLGA3     AU066104chr12:
133367241-133367241
GAintronicDe novo--Yuen2017 G
GOLGA3     1-0294-003chr12:
133402484-133402484
CGintronicDe novo--Yuen2017 G
GOLGA3     1-0294-003chr12:
133402438-133402438
CTintronicDe novo--Yuen2017 G
GOLGA3     1-0043-003chr12:
133358969-133358969
CAexonicDe novononsynonymous SNVNM_005895c.G3378Tp.Q1126H15.38-Yuen2017 G
GOLGA3     1-0294-003chr12:
133402430-133402430
AGintronicDe novo--Yuen2017 G
GOLGA3     2-1522-003chr12:
133372392-133372392
GAintronicDe novo--Yuen2017 G
GOLGA3     PN400341chr12:
133378465-133378465
GAexonicUnknownnonsynonymous SNVNM_001172557
NM_005895
c.C1688T
c.C1688T
p.A563V
p.A563V
23.20.0062Leblond2019 E
GOLGA3     11733.p1chr12:
133381371-133381371
CGexonicDe novononsynonymous SNVNM_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     PN400119chr12:
133378465-133378465
GAexonicUnknownnonsynonymous SNVNM_001172557
NM_005895
c.C1688T
c.C1688T
p.A563V
p.A563V
23.20.0062Leblond2019 E
GOLGA3     147-06-105672chr12:
133357540-133357540
GAintronicDe novo-2.0E-4Satterstrom2020 E
GOLGA3     PN400282chr12:
133378465-133378465
GAexonicUnknownnonsynonymous SNVNM_001172557
NM_005895
c.C1688T
c.C1688T
p.A563V
p.A563V
23.20.0062Leblond2019 E
GOLGA3     AU071204chr12:
133393296-133393296
GAexonicDe novononsynonymous SNVNM_001172557
NM_005895
c.C236T
c.C236T
p.P79L
p.P79L
11.742.477E-5Yuen2017 G
Source Variant Information

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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 notesView
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