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Results for "JMJD1C"

Variant Events: 39

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
JMJD1C     AU2697301chr10:
65121060-65121060
GAintronicDe novo--Trost2022 G
JMJD1C     1-0362-003chr10:
65128837-65128837
CTintronicDe novo--Trost2022 G
JMJD1C     3-0497-001chr10:
65080023-65080023
TCintronicDe novo--Trost2022 G
JMJD1C     AU2687301chr10:
65112499-65112499
GAintronicDe novo--Trost2022 G
JMJD1C     L7H6W_01chr10:
65059926-65059926
AATintronicDe novo--Trost2022 G
JMJD1C     MT_50.3chr10:
65079909-65079909
GAintronicDe novo--Trost2022 G
JMJD1C     5-5129-003chr10:
65035163-65035163
ACintronicDe novo--Trost2022 G
JMJD1C     AU2140305chr10:
65054235-65054235
GAintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     MT_178.3chr10:
65045078-65045078
AGintronicDe novo--Trost2022 G
JMJD1C     MSSNG00422-003chr10:
64945998-64945998
CTexonicDe novostopgainNM_001282948
NM_032776
c.G6170A
c.G6716A
p.W2057X
p.W2239X
49.0-Trost2022 G
Zhou2022 GE
JMJD1C     1-0595-005chr10:
65085953-65085953
GAintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     5-5111-003chr10:
65186291-65186291
CTintronicDe novo--Trost2022 G
JMJD1C     2-1725-003chr10:
65210131-65210131
GCintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     12227.p1chr10:
64973892-64973892
GTexonicMosaicnonsynonymous SNVNM_001282948
NM_032776
c.C1489A
c.C2035A
p.H497N
p.H679N
14.248.282E-6Dou2017 E
JMJD1C     MSSNG00072-003chr10:
65217415-65217415
AGintronicDe novo--Trost2022 G
JMJD1C     SP0111995chr10:
65140182-65140182
CGexonicDe novononsynonymous SNVNM_032776c.G229Cp.D77H27.6-Trost2022 G
JMJD1C     3-0391-000chr10:
65164123-65164123
TAintronicDe novo--Trost2022 G
JMJD1C     1-0524-003chr10:
65078360-65078360
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
JMJD1C     AU3729303chr10:
65008010-65008015
CAGGAGCAGintronicDe novo--Yuen2017 G
JMJD1C     AU021204chr10:
64958510-64958510
TCintronicDe novo--Yuen2017 G
JMJD1C     2-1398-004chr10:
65061627-65061627
GTintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     2-0305-003chr10:
65128775-65128775
CGintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     SP0066994chr10:
64974252-64974252
TGexonicDe novononsynonymous SNVNM_001282948
NM_032776
c.A1129C
c.A1675C
p.K377Q
p.K559Q
0.081-Fu2022 E
Trost2022 G
Zhou2022 GE
JMJD1C     SP0025270chr10:
64968247-64968247
CTexonicDe novononsynonymous SNVNM_001282948
NM_032776
c.G2636A
c.G3182A
p.S879N
p.S1061N
17.253.313E-5Fu2022 E
Trost2022 G
Zhou2022 GE
JMJD1C     1-0196-005chr10:
65087433-65087433
TAintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     AU2139301chr10:
64974195-64974195
TCexonicDe novononsynonymous SNVNM_001282948
NM_032776
c.A1186G
c.A1732G
p.S396G
p.S578G
0.234-Trost2022 G
Yuen2017 G
Zhou2022 GE
JMJD1C     AU2793301chr10:
65058283-65058283
AGintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     1-0559-004chr10:
65076046-65076046
AGintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     AU2458302chr10:
65048129-65048129
CTintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     AU4269301chr10:
64926234-64926234
TCdownstreamDe novo--Trost2022 G
Yuen2017 G
JMJD1C     2-1437-003chr10:
64938908-64938912
ACCTGAintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     08C74853chr10:
64967942-64967942
TCexonicDe novononsynonymous SNVNM_001282948
NM_032776
c.A2941G
c.A3487G
p.I981V
p.I1163V
5.56-Neale2012 E
JMJD1C     1339JS0017chr10:
64967942-64967942
TCexonicDe novononsynonymous SNVNM_001282948
NM_032776
c.A2941G
c.A3487G
p.I981V
p.I1163V
5.56-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
JMJD1C     1-0589-003chr10:
65018465-65018465
CTintronicDe novo--Trost2022 G
JMJD1C     AM03ZF-03chr10:
65031663-65031663
GCintronicDe novo--Trost2022 G
JMJD1C     4-0062-003chr10:
64979798-64979800
TACGAGintronicDe novo--Trost2022 G
JMJD1C     MT_44.3chr10:
65008156-65008158
CTGCintronicDe novo--Trost2022 G
JMJD1C     2-1730-003chr10:
65198374-65198374
TCintronicDe novo--Trost2022 G
Yuen2017 G
JMJD1C     5-0091-003chr10:
64954247-64954247
CAintronicDe novo--Trost2022 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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