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Results for "MAPK8IP3"

Variant Events: 13

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
MAPK8IP3     1-0494-003Achr16:
1777002-1777004
CTGCintronicDe novo--Yuen2017 G
MAPK8IP3     1-0460-003chr16:
1803109-1803109
GAintronicDe novo--Yuen2017 G
MAPK8IP3     2-1345-003chr16:
1785107-1785107
AGintronicDe novo--Yuen2016 G
Yuen2017 G
MAPK8IP3     19993-31610chr16:
1793424-1793424
GAexonicInheritednonsynonymous SNVNM_001040439
NM_015133
c.G691A
c.G691A
p.D231N
p.D231N
25.9-Callaghan2019 G
MAPK8IP3     iHART1829chr16:
1818703-1818720
GGAGACGGAGAGGACGACGexonicPaternalframeshift deletionNM_001040439
NM_015133
c.3872_3888del
c.3890_3906del
p.G1291fs
p.G1297fs
--Ruzzo2019 G
MAPK8IP3     2-1168-003chr16:
1787508-1787513
CGTGTGCGTGintronicDe novo--Yuen2017 G
MAPK8IP3     AU3787302chr16:
1797726-1797726
TCintronicDe novo--Yuen2017 G
MAPK8IP3     1-0971-003chr16:
1812887-1812887
CTexonicDe novononsynonymous SNVNM_001040439
NM_015133
c.C1757T
c.C1775T
p.P586L
p.P592L
16.79-Yuen2017 G
MAPK8IP3     1-0139-003chr16:
1793180-1793180
CGintronicDe novo--Yuen2017 G
MAPK8IP3     7-0024-005chr16:
1765033-1765033
CTintronicDe novo--Yuen2017 G
MAPK8IP3     Lim2017:70371chr16:
1756621-1756621
AGexonicDe novononsynonymous SNVNM_001040439
NM_015133
c.A281G
c.A281G
p.Y94C
p.Y94C
16.3-Lim2017 E
MAPK8IP3     A2chr16:
1766513-1766513
GAintronicDe novo--Wu2018 G
MAPK8IP3     13525.p1chr16:
1756621-1756621
AGexonicDe novononsynonymous SNVNM_001040439
NM_015133
c.A281G
c.A281G
p.Y94C
p.Y94C
16.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 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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