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Results for "SMTN"

Variant Events: 3

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
SMTN     1281022chr22:
31486845-31486845
GAexonicDe novononsynonymous SNVNM_001207018
NM_001207017
NM_006932
NM_134269
NM_134270
c.G1085A
c.G1079A
c.G917A
c.G917A
c.G917A
p.R362H
p.R360H
p.R306H
p.R306H
p.R306H
7.0691.648E-5Satterstrom2020 E
SMTN     AU3506302chr22:
31488946-31488946
AGintronicDe novo--Yuen2017 G
SMTN     SJD_49chr22:
31487777-31487777
CTexonicMaternalnonsynonymous SNVNM_001207018
NM_001207017
NM_006932
NM_134269
NM_134270
c.C1744T
c.C1738T
c.C1576T
c.C1576T
c.C1576T
p.H582Y
p.H580Y
p.H526Y
p.H526Y
p.H526Y
16.37-Toma2013 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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