or
or
Exact

Results for "JMJD1C"

Variant Events: 19

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     1-0196-005chr10:
65087433-65087433
TAintronicDe novo--Yuen2017 G
JMJD1C     AU2139301chr10:
64974195-64974195
TCexonicDe novononsynonymous SNVNM_001282948
NM_032776
c.A1186G
c.A1732G
p.S396G
p.S578G
0.234-Yuen2017 G
JMJD1C     AU2793301chr10:
65058283-65058283
AGintronicDe novo--Yuen2017 G
JMJD1C     1-0559-004chr10:
65076046-65076046
AGintronicDe novo--Yuen2017 G
JMJD1C     AU2140305chr10:
65054235-65054235
GAintronicDe novo--Yuen2017 G
JMJD1C     AU2458302chr10:
65048129-65048129
CTintronicDe novo--Yuen2017 G
JMJD1C     1-0595-005chr10:
65085953-65085953
GAintronicDe novo--Yuen2017 G
JMJD1C     AU4269301chr10:
64926234-64926234
TCdownstreamDe novo--Yuen2017 G
JMJD1C     2-1437-003chr10:
64938908-64938912
ACCTGAintronicDe novo--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     2-1725-003chr10:
65210131-65210131
GCintronicDe novo--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     1339JS0017chr10:
64967942-64967942
TCexonicDe novononsynonymous SNVNM_001282948
NM_032776
c.A2941G
c.A3487G
p.I981V
p.I1163V
5.56-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
JMJD1C     1-0524-003chr10:
65078360-65078360
AGintronicDe novo--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--Yuen2017 G
JMJD1C     2-0305-003chr10:
65128775-65128775
CGintronicDe novo--Yuen2017 G
JMJD1C     2-1730-003chr10:
65198374-65198374
TCintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More