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Results for "MAP3K20"

Variant Events: 5

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
MAP3K20     13847.p1chr2:
174096941-174096941
GAexonicDe novononsynonymous SNVNM_016653c.G1054Ap.V352I15.133.312E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MAP3K20     SJD_10chr2:
174081896-174081896
GCexonicMaternalnonsynonymous SNVNM_016653
NM_133646
c.G905C
c.G905C
p.S302T
p.S302T
15.54-Toma2013 E
MAP3K20     14015.p1chr2:
174015745-174015745
GAintronicDe novo--Turner2016 G
MAP3K20     AU1698302chr2:
173962782-173962784
CCTCintronicDe novo--Yuen2017 G
MAP3K20     SSC09696chr2:
174096941-174096941
GAexonicDe novononsynonymous SNVNM_016653c.G1054Ap.V352I15.133.312E-5Lim2017 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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