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Results for "GOLGA3"

Variant Events: 35

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     1550-22157chr12:
133353255-133353256		TGTexonicframeshift deletionNM_005895c.3942delCp.G1314fs--Callaghan2019 G
GOLGA3     PN400103chr12:
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--Trost2022 G
Yuen2017 G
GOLGA3     mAGRE2700chr12:
133358892-133358900		AACTGGACTAexonicMaternalframeshift deletionNM_005895c.3447_3454delp.L1149fs--Cirnigliaro2023 G
GOLGA3     SP0247131chr12:
133360705-133360705		GAexonicDe novosynonymous SNVNM_001172557c.C3312Tp.H1104H-1.043E-5Trost2022 G
GOLGA3     1-0841-003chr12:
133366380-133366380		GCintronicDe novo--Trost2022 G
GOLGA3     1-0564-003chr12:
133352882-133352882		GAintronicDe novo--Trost2022 G
GOLGA3     SP0247127chr12:
133360705-133360705		GAexonicDe novosynonymous SNVNM_001172557c.C3312Tp.H1104H-1.043E-5Trost2022 G
GOLGA3     PN400119chr12:
133378465-133378465		GAexonicUnknownnonsynonymous SNVNM_001172557
NM_005895		c.C1688T
c.C1688T		p.A563V
p.A563V		23.20.0062Leblond2019 E
GOLGA3     MSSNG00030-003chr12:
133358998-133358998		CTexonicDe novononsynonymous SNVNM_005895c.G3349Ap.E1117K21.04.118E-5Trost2022 G
Zhou2022 GE
GOLGA3     SP0093054chr12:
133389865-133389865		TGintronicDe novo--Trost2022 G
GOLGA3     1-0738-003chr12:
133392732-133392732		CTintronicDe novo--Trost2022 G
GOLGA3     1-0079-003chr12:
133375561-133375561		GAintronicDe novo--Trost2022 G
GOLGA3     SP0025959chr12:
133389865-133389865		TGintronicDe novo--Trost2022 G
GOLGA3     AU3649305chr12:
133366380-133366380		GCintronicDe novo--Trost2022 G
GOLGA3     MT_82.3chr12:
133366380-133366380		GCintronicDe novo--Trost2022 G
GOLGA3     1-1018-003chr12:
133366380-133366380		GCintronicDe novo--Trost2022 G
GOLGA3     1-1128-003chr12:
133366380-133366380		GCintronicDe novo--Trost2022 G
GOLGA3     iHART2397chr12:
133357485-133357485		GAexonicMaternalstopgainNM_005895c.C3481Tp.Q1161X46.0-Ruzzo2019 G
GOLGA3     iHART2700chr12:
133358892-133358900		AACTGGACTAexonicMaternalframeshift deletionNM_005895c.3447_3454delp.L1149fs--Ruzzo2019 G
GOLGA3     PN400257chr12:
133378465-133378465		GAexonicUnknownnonsynonymous SNVNM_001172557
NM_005895		c.C1688T
c.C1688T		p.A563V
p.A563V		23.20.0062Leblond2019 E
GOLGA3     MSSNG00360-003chr12:
133400330-133400330		GAintronicDe novo--Trost2022 G
GOLGA3     1-0294-003chr12:
133402484-133402484		CGintronicDe novo--Yuen2017 G
GOLGA3     11733_p1chr12:
133381371-133381371		CGexonicDe novononsynonymous SNVNM_001172557
NM_005895		c.G1528C
c.G1528C		p.E510Q
p.E510Q		19.62-Fu2022 E
GOLGA3     1-0294-003chr12:
133402438-133402438		CTintronicDe novo--Yuen2017 G
GOLGA3     1-0043-003chr12:
133358969-133358969		CAexonicDe novononsynonymous SNVNM_005895c.G3378Tp.Q1126H15.38-Trost2022 G
Yuen2017 G
Zhou2022 GE
GOLGA3     1-0294-003chr12:
133402430-133402430		AGintronicDe novo--Yuen2017 G
GOLGA3     2-1522-003chr12:
133372392-133372392		GAintronicDe novo--Trost2022 G
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
Zhou2022 GE
GOLGA3     mAGRE2397chr12:
133357485-133357485		GAexonicMaternalstopgainNM_005895c.C3481Tp.Q1161X46.0-Cirnigliaro2023 G
GOLGA3     147-06-105672chr12:
133357540-133357540		GAintronicDe novo-2.0E-4Satterstrom2020 E
Trost2022 G
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-5Trost2022 G
Yuen2017 G
Zhou2022 GE
Source Variant Information

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Source:

Paper alias:

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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.
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