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Results for "DHCR7"

Variant Events: 9

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
DHCR7     AU049304chr11:
71152015-71152015
CGintronicDe novo--Yuen2017 G
DHCR7     Yalcintepe2021:7chr11:
71146861-71146861
CTexonicnonsynonymous SNVNM_001163817
NM_001360
c.G988A
c.G988A
p.V330M
p.V330M
16.334.0E-4Yalcintepe2021 T
DHCR7     Li2017:16198chr11:
71148881-71148881
GTexonicUnknownnonsynonymous SNVNM_001163817
NM_001360
c.C940A
c.C940A
p.L314M
p.L314M
16.95-Li2017 T
DHCR7     Li2017:17505chr11:
71146681-71146681
GAexonicUnknownnonsynonymous SNVNM_001163817
NM_001360
c.C1168T
c.C1168T
p.H390Y
p.H390Y
16.559.478E-5Li2017 T
DHCR7     G01-GEA-289-HIchr11:
71146479-71146479
CTexonicDe novononsynonymous SNVNM_001163817
NM_001360
c.G1370A
c.G1370A
p.R457Q
p.R457Q
12.38-Satterstrom2020 E
DHCR7     Yalcintepe2021:2chr11:
71148969-71148972
GAAGGexonicnonframeshift deletionNM_001163817
NM_001360
c.849_851del
c.849_851del
p.283_284del
p.283_284del
--Yalcintepe2021 T
DHCR7     Li2017:23727chr11:
71155917-71155917
GAexonicUnknownstopgainNM_001163817
NM_001360
c.C82T
c.C82T
p.Q28X
p.Q28X
33.08.237E-6Li2017 T
DHCR7     AU4029302chr11:
71146646-71146646
GAexonicDe novosynonymous SNVNM_001163817
NM_001360
c.C1203T
c.C1203T
p.G401G
p.G401G
12.258.981E-6Yuen2017 G
DHCR7     AU4013303chr11:
71145999-71145999
CTUTR3De 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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