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Results for "MAP4K3"

Variant Events: 11

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
MAP4K3     AU045512chr2:
39564375-39564375
ATintronicDe novo--Yuen2017 G
MAP4K3     AU2793302chr2:
39482721-39482721
CTintronicDe novo--Yuen2017 G
MAP4K3     AU3852301chr2:
39632047-39632047
CTintronicDe novo--Yuen2017 G
MAP4K3     2-0198-005chr2:
39586409-39586409
CGintronicDe novo--Yuen2017 G
MAP4K3     2-0198-004chr2:
39586409-39586409
CGintronicDe novo--Yuen2017 G
MAP4K3     2-0043-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
MAP4K3     AU045512chr2:
39559343-39559343
CTintronicDe novo--Yuen2017 G
MAP4K3     2-1505-004chr2:
39476004-39476004
AGdownstreamDe novo--Yuen2017 G
MAP4K3     AU3636302chr2:
39623425-39623428
TCCCTCCintronicDe novo--Yuen2017 G
MAP4K3     2-1142-003chr2:
39490851-39490851
CAintronicDe novo--Yuen2017 G
MAP4K3     14343.p1chr2:
39536651-39536651
ACexonicDe novononsynonymous SNVNM_001270425
NM_003618
c.T1007G
c.T1007G
p.V336G
p.V336G
19.33-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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