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Results for "EHD1"

Variant Events: 5

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
EHD1     F10312-1chr11:
64621930-64621930
CTexonicDe novononsynonymous SNVNM_006795
NM_001282445
NM_001282444
c.G1480A
c.G1522A
c.G1480A
p.G494R
p.G508R
p.G494R
27.3-Satterstrom2020 E
EHD1     11341.p1chr11:
64628039-64628039
CTintronicDe novo--Turner2016 G
EHD1     11341.p1chr11:
64628043-64628043
AGintronicDe novo--Turner2016 G
EHD1     11341.p1chr11:
64628029-64628029
AGintronicDe novo--Turner2016 G
EHD1     JASD_Fam0226chr11:
64622239-64622239
CTexonicDe novononsynonymous SNVNM_006795
NM_001282445
NM_001282444
c.G1171A
c.G1213A
c.G1171A
p.A391T
p.A405T
p.A391T
19.5-Takata2018 E
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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