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Results for "JAKMIP1"

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
JAKMIP1     1-0560-003chr4:
6192608-6192608
AGintronicDe novo--Yuen2017 G
JAKMIP1     2-1166-003chr4:
6096321-6096321
GAintronicDe novo--Yuen2016 G
Yuen2017 G
JAKMIP1     13697.p1chr4:
6064158-6064158
GAexonicDe novostopgainNM_001306134
NM_001099433
NM_001306133
NM_144720
c.C946T
c.C1441T
c.C1441T
c.C1441T
p.R316X
p.R481X
p.R481X
p.R481X
28.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
JAKMIP1     2-0003-003chr4:
6039963-6039963
CTintronicDe novo--Yuen2017 G
JAKMIP1     AU2089302chr4:
6126959-6126959
CTintronicDe novo--Yuen2017 G
JAKMIP1     2-1353-003chr4:
6149885-6149885
GAintronicDe novo--Yuen2016 G
Yuen2017 G
JAKMIP1     2-1363-003chr4:
6074782-6074782
GTintronicDe novo--Yuen2017 G
JAKMIP1     05HI3870Achr4:
6114525-6114525
GAexonicDe novononsynonymous SNVNM_001099433
NM_001306133
NM_001306134
NM_144720
c.C53T
c.C53T
c.C53T
c.C53T
p.A18V
p.A18V
p.A18V
p.A18V
16.284.122E-5Satterstrom2020 E
JAKMIP1     2-0145-004chr4:
6131210-6131210
TCintronicDe novo--Yuen2017 G
JAKMIP1     12607.p1chr4:
6064121-6064121
CTexonicDe novononsynonymous SNVNM_001306134
NM_001099433
NM_001306133
NM_144720
c.G983A
c.G1478A
c.G1478A
c.G1478A
p.R328Q
p.R493Q
p.R493Q
p.R493Q
16.241.674E-5Ji2016 E
Krumm2015 E
JAKMIP1     09C95778chr4:
6066639-6066639
TGexonicDe novononsynonymous SNVNM_001306134
NM_001099433
NM_001306133
NM_144720
c.A904C
c.A1399C
c.A1399C
c.A1399C
p.T302P
p.T467P
p.T467P
p.T467P
20.4-Lim2017 E
JAKMIP1     AU039305chr4:
6140407-6140407
CTintronicDe novo--Yuen2017 G
JAKMIP1     1-0736-003chr4:
6179359-6179359
ACintronicDe novo--Yuen2017 G
JAKMIP1     AU021204chr4:
6184411-6184411
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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