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Results for "MAP3K4"

Variant Events: 14

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
MAP3K4     AU1698302chr6:
161505183-161505183
TGintronicDe novo--Yuen2017 G
MAP3K4     124-10-113043chr6:
161470570-161470570
TGexonicDe novononsynonymous SNVNM_001301072
NM_005922
NM_006724
c.T1266G
c.T1266G
c.T1266G
p.I422M
p.I422M
p.I422M
15.23-Satterstrom2020 E
MAP3K4     08C73637chr6:
161412970-161412970
GAexonicDe novononsynonymous SNVNM_001301072
NM_005922
NM_006724
c.G7A
c.G7A
c.G7A
p.E3K
p.E3K
p.E3K
15.9-Satterstrom2020 E
MAP3K4     AU2100302chr6:
161486670-161486670
GAintronicDe novo--Yuen2017 G
MAP3K4     AU1952305chr6:
161452591-161452591
GAintronicDe novo--Yuen2017 G
MAP3K4     5-0138-003chr6:
161447462-161447462
CTintronicDe novo--Yuen2017 G
MAP3K4     Cukier2014:17342chr6:
161470544-161470544
TGexonicUnknownnonsynonymous SNVNM_001301072
NM_005922
NM_006724
c.T1240G
c.T1240G
c.T1240G
p.L414V
p.L414V
p.L414V
18.075.769E-5Cukier2014 E
MAP3K4     Cukier2014:17342chr6:
161508880-161508880
ACexonicUnknownnonsynonymous SNVNM_001301072
NM_005922
NM_006724
NM_001291958
c.A2717C
c.A2717C
c.A2717C
c.A1076C
p.H906P
p.H906P
p.H906P
p.H359P
13.590.0235Cukier2014 E
MAP3K4     14643.p1chr6:
161470213-161470213
CTexonicMosaicsynonymous SNVNM_001301072
NM_005922
NM_006724
c.C909T
c.C909T
c.C909T
p.V303V
p.V303V
p.V303V
-8.304E-6Dou2017 E
MAP3K4     NDAR_INVXN358VG7_wes1chr6:
161527770-161527770
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
MAP3K4     AU3645301chr6:
161471383-161471383
AGintronicDe novo--Yuen2017 G
MAP3K4     7-0143-003chr6:
161518612-161518612
AGintronicDe novo--Yuen2017 G
MAP3K4     AU0786305chr6:
161413428-161413428
CTintronicDe novo--Yuen2017 G
MAP3K4     2-1328-003chr6:
161447457-161447457
GAintronicDe 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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