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Results for "MSANTD2"

Variant Events: 6

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
MSANTD2     14370.p1chr11:
124642312-124642312
GAintronicDe novo--Turner2016 G
MSANTD2     12019.p1chr11:
124637785-124637785
GAexonicDe novononsynonymous SNVNM_001312920
NM_001308027
NM_001312921
NM_024631
c.C277T
c.C967T
c.C277T
c.C811T
p.R93C
p.R323C
p.R93C
p.R271C
18.268.247E-6Ji2016 E
Krumm2015 E
Satterstrom2020 E
MSANTD2     AU3765303chr11:
124638121-124638121
GCintronicDe novo--Yuen2017 G
MSANTD2     12163.p1chr11:
124637386-124637386
TGexonicDe novononsynonymous SNVNM_001312920
NM_001308027
NM_001312921
NM_024631
c.A676C
c.A1366C
c.A676C
c.A1210C
p.T226P
p.T456P
p.T226P
p.T404P
12.143.301E-5Lim2017 E
MSANTD2     AU3343301chr11:
124645680-124645680
CGUTR5De novo--Yuen2017 G
MSANTD2     SSC03595chr11:
124637785-124637785
GAexonicDe novononsynonymous SNVNM_001312920
NM_001308027
NM_001312921
NM_024631
c.C277T
c.C967T
c.C277T
c.C811T
p.R93C
p.R323C
p.R93C
p.R271C
18.268.247E-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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