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Results for "DFNA5"

Variant Events: 22

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
DFNA5     NDAR_INVAE861TH8_wes1chr7:
24742438-24742438		CTexonicDe novononsynonymous SNVNM_001127454
NM_001127453
NM_004403		c.G706A
c.G1198A
c.G1198A		p.A236T
p.A400T
p.A400T		8.6389.89E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DFNA5     5-0088-003chr7:
24795921-24795921		AGintronicDe novo--Trost2022 G
Yuen2017 G
DFNA5     mAGRE2934chr7:
24745812-24745812		CCGexonicMaternalframeshift insertionNM_001127454
NM_001127453
NM_004403		c.681_682insC
c.1173_1174insC
c.1173_1174insC		p.A228fs
p.A392fs
p.A392fs		-2.475E-5Cirnigliaro2023 G
DFNA5     mAGRE2239chr7:
24742439-24742439		GGCTATexonicPaternalstopgainNM_001127454
NM_001127453
NM_004403		c.704_705insATAG
c.1196_1197insATAG
c.1196_1197insATAG		p.S235_A236delinsRX
p.S399_A400delinsRX
p.S399_A400delinsRX		-3.297E-5Cirnigliaro2023 G
DFNA5     mAGRE2237chr7:
24742439-24742439		GGCTATexonicPaternalstopgainNM_001127454
NM_001127453
NM_004403		c.704_705insATAG
c.1196_1197insATAG
c.1196_1197insATAG		p.S235_A236delinsRX
p.S399_A400delinsRX
p.S399_A400delinsRX		-3.297E-5Cirnigliaro2023 G
DFNA5     2-1428-003chr7:
24775870-24775870		AGintronicDe novo--Yuen2017 G
DFNA5     MSSNG00392-003chr7:
24790452-24790452		TCintronicDe novo--Trost2022 G
DFNA5     AU1223303chr7:
24738572-24738572		CTUTR3De novo--Trost2022 G
Yuen2017 G
DFNA5     MSSNG00063-003chr7:
24794789-24794789		GAintronicDe novo--Trost2022 G
DFNA5     iHART2237chr7:
24742439-24742439		GGCTATexonicPaternalstopgainNM_001127454
NM_001127453
NM_004403		c.704_705insATAG
c.1196_1197insATAG
c.1196_1197insATAG		p.S235_A236delinsRX
p.S399_A400delinsRX
p.S399_A400delinsRX		-3.297E-5Ruzzo2019 G
DFNA5     4-0039-003chr7:
24777846-24777848		TAATintronicDe novo--Trost2022 G
DFNA5     iHART2239chr7:
24742439-24742439		GGCTATexonicPaternalstopgainNM_001127454
NM_001127453
NM_004403		c.704_705insATAG
c.1196_1197insATAG
c.1196_1197insATAG		p.S235_A236delinsRX
p.S399_A400delinsRX
p.S399_A400delinsRX		-3.297E-5Ruzzo2019 G
DFNA5     7-0442-003chr7:
24778654-24778654		GGAintronicDe novo--Trost2022 G
DFNA5     3-0142-000chr7:
24744419-24744419		CGintronicDe novo--Trost2022 G
DFNA5     2-0070-004chr7:
24770461-24770462		GATGintronicDe novo--Trost2022 G
DFNA5     mAGRE5036chr7:
24745812-24745812		CCGexonicPaternalframeshift insertionNM_001127454
NM_001127453
NM_004403		c.681_682insC
c.1173_1174insC
c.1173_1174insC		p.A228fs
p.A392fs
p.A392fs		-2.475E-5Cirnigliaro2023 G
DFNA5     5906chr7:
24742310-24742310		TGintronicDe novo-6.0E-4Trost2022 G
DFNA5     mAGRE5035chr7:
24745812-24745812		CCGexonicPaternalframeshift insertionNM_001127454
NM_001127453
NM_004403		c.681_682insC
c.1173_1174insC
c.1173_1174insC		p.A228fs
p.A392fs
p.A392fs		-2.475E-5Cirnigliaro2023 G
DFNA5     12493.p1chr7:
24799188-24799188		TCintergenicDe novo--Turner2016 G
DFNA5     12011.p1chr7:
24742310-24742310		TGintronicDe novo-6.0E-4Satterstrom2020 E
DFNA5     iHART2934chr7:
24745812-24745812		CCGexonicMaternalframeshift insertionNM_001127454
NM_001127453
NM_004403		c.681_682insC
c.1173_1174insC
c.1173_1174insC		p.A228fs
p.A392fs
p.A392fs		-2.475E-5Ruzzo2019 G
DFNA5     1-0560-003chr7:
24797529-24797529		CTUTR5De novo--Trost2022 G
Yuen2017 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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