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Results for "ADAM15"

Variant Events: 2

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
ADAM15     iHART3041chr1:
155028429-155028429
CTexonicMaternalstopgainNM_001261464
NM_001261465
NM_001261466
NM_003815
NM_207191
NM_207194
NM_207195
NM_207196
NM_207197
c.C727T
c.C697T
c.C649T
c.C697T
c.C697T
c.C697T
c.C697T
c.C697T
c.C697T
p.Q243X
p.Q233X
p.Q217X
p.Q233X
p.Q233X
p.Q233X
p.Q233X
p.Q233X
p.Q233X
19.458.238E-6Ruzzo2019 G
ADAM15     ASDFI_1061chr1:
155026403-155026403
GAexonicDe novononsynonymous SNVNM_001261464
NM_001261465
NM_001261466
NM_003815
NM_207191
NM_207194
NM_207195
NM_207196
NM_207197
c.G311A
c.G281A
c.G233A
c.G281A
c.G281A
c.G281A
c.G281A
c.G281A
c.G281A
p.R104H
p.R94H
p.R78H
p.R94H
p.R94H
p.R94H
p.R94H
p.R94H
p.R94H
12.28.247E-6Lim2017 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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