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Results for "MAP3K1"

Variant Events: 15

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
MAP3K1     111313chr5:
56160717-56160717
GAexonicnonsynonymous SNVNM_005921c.G991Ap.G331R29.2-Woodbury-Smith2022 E
MAP3K1     M15079chr5:
56174918-56174918
GAexonicMaternalnonsynonymous SNVNM_005921c.G2077Ap.D693N32.0-Guo2018 T
Wang2016 T
MAP3K1     2-0007-003chr5:
56129091-56129091
AGintronicDe novo--Yuen2017 G
MAP3K1     M12474chr5:
56152428-56152428
CTexonicUnknownnonsynonymous SNVNM_005921c.C484Tp.R162C36.08.3E-6Guo2018 T
Wang2016 T
MAP3K1     Cukier2014:7637chr5:
56155672-56155672
AGexonicUnknownnonsynonymous SNVNM_005921c.A764Gp.N255S13.570.0203Cukier2014 E
MAP3K1     M08973chr5:
56170973-56170973
GAexonicUnknownnonsynonymous SNVNM_005921c.G1801Ap.E601K36.08.283E-6Guo2018 T
Wang2016 T
MAP3K1     M20294 Complex Event; expand row to view variants  Maternalframeshift insertion, frameshift deletionNM_005921
NM_005921
c.1369dupA
c.1368_1369del
p.L456fs
p.L456fs
--Guo2018 T
Stessman2017 T
Wang2016 T
MAP3K1     M23809chr5:
56155686-56155686
CTexonicUnknownnonsynonymous SNVNM_005921c.C778Tp.R260C20.11.765E-5Stessman2017 T
MAP3K1     AU2139301chr5:
56141416-56141417
GTGintronicDe novo--Yuen2017 G
MAP3K1     1-0092-003chr5:
56201569-56201573
GAGTCGintergenicDe novo--Yuen2017 G
MAP3K1     2-1529-003chr5:
56196015-56196015
GAintergenicDe novo--Yuen2017 G
MAP3K1     AU071804chr5:
56137525-56137525
ACintronicDe novo--Yuen2017 G
MAP3K1     M19767chr5:
56176602-56176602
GAexonicPaternalnonsynonymous SNVNM_005921c.G2152Ap.A718T35.0-Guo2018 T
Stessman2017 T
Wang2016 T
MAP3K1     2-1223-003chr5:
56147677-56147677
GAintronicDe novo--Yuen2017 G
MAP3K1     108990-100chr5:
56177585-56177585
GAexonicUnknownnonsynonymous SNVNM_005921c.G2558Ap.R853H23.31.0E-4Stessman2017 T
Source Variant Information

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Paper alias:

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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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