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Results for "MAP3K10"

Variant Events: 7

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
MAP3K10     Cukier2014:7506chr19:
40698441-40698441
CAexonicUnknownnonsynonymous SNVNM_002446c.C503Ap.P168Q22.50.0016Cukier2014 E
MAP3K10     iHART2106chr19:
40720000-40720001
ACAexonicUnknownframeshift deletionNM_002446c.2415delCp.D805fs--Ruzzo2019 G
MAP3K10     DEASD_0014_001chr19:
40710355-40710355
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
MAP3K10     Bruno2021:XIVchr19:
40719910-40719910
CGexonicDe novononsynonymous SNVNM_002446c.C2324Gp.S775C18.35-Bruno2021 E
MAP3K10     13511.p1chr19:
40710396-40710396
GAexonicDe novononsynonymous SNVNM_002446c.G868Ap.G290R32.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
MAP3K10     AU1848302chr19:
40711506-40711506
GAintronicDe novo--Yuen2017 G
MAP3K10     SSC08055chr19:
40710396-40710396
GAexonicDe novononsynonymous SNVNM_002446c.G868Ap.G290R32.0-Lim2017 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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