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Results for "DFNA5"

Variant Events: 10

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     2-1428-003chr7:
24775870-24775870
AGintronicDe novo--Yuen2017 G
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
Kosmicki2017 E
Satterstrom2020 E
DFNA5     AU1223303chr7:
24738572-24738572
CTUTR3De novo--Yuen2017 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     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     5-0088-003chr7:
24795921-24795921
AGintronicDe novo--Yuen2017 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--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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