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Results for "HEPH"

Variant Events: 11

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
HEPH     AU4093301chrX:
65577165-65577167
TAATAAAintergenicDe novo--Yuen2017 G
HEPH     AU4093304chrX:
65577165-65577167
TAATAAAintergenicDe novo--Yuen2017 G
HEPH     AU3728301chrX:
65781375-65781375
CTintergenicDe novo--Yuen2017 G
HEPH     1-0923-003chrX:
65432719-65432719
TGintronicDe novo--Yuen2017 G
HEPH     AU037103chrX:
65423236-65423236
GAexonicUnknownnonsynonymous SNVNM_001282141
NM_014799
NM_001130860
NM_138737
c.G1541A
c.G1307A
c.G2117A
c.G2270A
p.S514N
p.S436N
p.S706N
p.S757N
11.197.0E-4Chahrour2012 E
HEPH     1-0609-003chrX:
65587116-65587116
GCintergenicDe novo--Yuen2017 G
HEPH     1-0652-004chrX:
65467639-65467639
GAintronicDe novo--Yuen2017 G
HEPH     2-1402-003chrX:
65507588-65507588
CAintergenicDe novo--Yuen2017 G
HEPH     iHART2533chrX:
65392199-65392200
TGTexonicUnknownframeshift deletionNM_001130860
NM_001282141
NM_138737
c.180delG
c.180delG
c.333delG
p.V60fs
p.V60fs
p.V111fs
--Ruzzo2019 G
HEPH     1-0218-003chrX:
65731977-65731977
CTintergenicDe novo--Yuen2017 G
HEPH     7-0249-003chrX:
65660445-65660445
GTintergenicDe 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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