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Results for "MAP3K5"

Variant Events: 17

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
MAP3K5     2-1709-003chr6:
137059218-137059218
CTintronicDe novo--Yuen2017 G
MAP3K5     Bruno2021:XIXchr6:
136944071-136944071
CAexonicDe novononsynonymous SNVNM_005923c.G2065Tp.G689C32.0-Bruno2021 E
MAP3K5     SP0059512chr6:
136922928-136922928
GCintronicDe novo--Fu2022 E
MAP3K5     14519.p1chr6:
137015334-137015334
AGexonicDe novosynonymous SNVNM_005923c.T1197Cp.D399D--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
MAP3K5     SP0036848chr6:
137019671-137019671
CTexonicDe novosynonymous SNVNM_005923c.G762Ap.V254V--Fu2022 E
MAP3K5     1-0665-003chr6:
137022388-137022388
GAintronicDe novo--Yuen2017 G
MAP3K5     7-0250-003chr6:
136936842-136936842
GCintronicDe novo--Yuen2017 G
MAP3K5     09C80916chr6:
137015461-137015462
ACAintronicDe novo--Satterstrom2020 E
MAP3K5     1-0049-004chr6:
136993956-136993956
TCintronicDe novo--Yuen2017 G
MAP3K5     2-1182-003chr6:
136995636-136995636
TGintronicDe novo--Yuen2016 G
Yuen2017 G
MAP3K5     1-0675-003chr6:
136983092-136983092
CAintronicDe novo--Yuen2017 G
MAP3K5     AU046707chr6:
137107591-137107591
TCintronicDe novo--Yuen2017 G
MAP3K5     36766chr6:
137015334-137015334
AGexonicDe novosynonymous SNVNM_005923c.T1197Cp.D399D--Fu2022 E
MAP3K5     AU3874302chr6:
137090641-137090646
GTCTATGTintronicDe novo--Yuen2017 G
MAP3K5     2-1314-003chr6:
137067636-137067636
GAintronicDe novo--Yuen2016 G
MAP3K5     Lim2017:36766chr6:
137015334-137015334
AGexonicDe novosynonymous SNVNM_005923c.T1197Cp.D399D--Lim2017 E
MAP3K5     AU3725302chr6:
136909884-136909884
CTintronicDe novo--Yuen2017 G
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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