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Results for "JARID2"

Variant Events: 25

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
JARID2     1-0436-003chr6:
15418741-15418741
CTintronicDe novo--Yuen2016 G
Yuen2017 G
JARID2     DEASD_4037_001chr6:
15497369-15497369
ACexonicDe novononsynonymous SNVNM_001267040
NM_004973
c.A1397C
c.A1913C
p.Q466P
p.Q638P
23.6-Fu2022 E
JARID2     13009.p1chr6:
15374368-15374368
GAexonicDe novo, Mosaicsynonymous SNVNM_004973c.G66Ap.P22P-2.471E-5Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
JARID2     1-0507-003chr6:
15473125-15473125
AGintronicDe novo--Yuen2016 G
Yuen2017 G
JARID2     2-1620-003chr6:
15303068-15303068
CGintronicDe novo--Yuen2017 G
JARID2     2-0012-003chr6:
15482802-15482802
CGintronicDe novo--Yuen2017 G
JARID2     AU012803chr6:
15398797-15398797
GAintronicDe novo--Yuen2017 G
JARID2     SP0118852chr6:
15501370-15501370
GGAexonicDe novoframeshift insertionNM_001267040
NM_004973
c.1663dupA
c.2179dupA
p.E554fs
p.E726fs
--Antaki2022 GE
Fu2022 E
JARID2     1-0935-003chr6:
15265974-15265974
CTintronicDe novo--Yuen2017 G
JARID2     2-1189-003chr6:
15520618-15520618
AGUTR3De novo--Yuen2017 G
JARID2     SP0017203chr6:
15512607-15512607
TCexonicDe novononsynonymous SNVNM_001267040
NM_004973
c.T2605C
c.T3121C
p.F869L
p.F1041L
15.31-Fu2022 E
JARID2     AU4412302chr6:
15478974-15478974
CTintronicDe novo--Yuen2017 G
JARID2     13009_p1chr6:
15374368-15374368
GAexonicDe novosynonymous SNVNM_004973c.G66Ap.P22P-2.471E-5Fu2022 E
JARID2     SP0077200chr6:
15452425-15452425
CTintronicDe novo-1.665E-5Fu2022 E
JARID2     1280012chr6:
15507337-15507337
TGintronicDe novo-8.527E-5Satterstrom2020 E
JARID2     2-1409-003chr6:
15504762-15504762
GAexonicDe novononsynonymous SNVNM_001267040
NM_004973
c.G1964A
c.G2480A
p.R655Q
p.R827Q
36.0-Yuen2016 G
Yuen2017 G
JARID2     2-0003-004chr6:
15288578-15288578
CTintronicDe novo--Yuen2017 G
JARID2     A20chr6:
15386511-15386511
CTintronicDe novo--Wu2018 G
JARID2     08C73928chr6:
15496635-15496635
CTexonicDe novosynonymous SNVNM_001267040
NM_004973
c.C663T
c.C1179T
p.L221L
p.L393L
-1.664E-5Fu2022 E
Satterstrom2020 E
JARID2     1-0344-003chr6:
15453948-15453948
AGintronicDe novo--Yuen2017 G
JARID2     Mahjani2021:118chr6:
15410598-15410598
TGsplicingsplicing21.3-Mahjani2021 E
JARID2     AU3847302chr6:
15346568-15346568
CAintronicDe novo--Yuen2017 G
JARID2     1-0806-003chr6:
15482921-15482924
GAAAGAAAAintronicDe novo--Yuen2017 G
JARID2     Cukier2014:37994chr6:
15496930-15496930
CTexonicUnknownnonsynonymous SNVNM_001267040
NM_004973
c.C958T
c.C1474T
p.R320C
p.R492C
16.010.0087Cukier2014 E
JARID2     AU061Achr6:
15517480-15517488
TGATGTACCTexonicDe novoframeshift deletionNM_001267040
NM_004973
c.3024_3031del
c.3540_3547del
p.L1008fs
p.L1180fs
--DeRubeis2014 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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