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Results for "KDM5C"

Variant Events: 6

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
KDM5C     Mahjani2021:50chrX:
53240726-53240726
CTexonicnonsynonymous SNVNM_001146702
NM_001282622
NM_004187
c.G1153A
c.G1351A
c.G1354A
p.G385S
p.G451S
p.G452S
29.6-Mahjani2021 E
KDM5C     Alvarez-Mora2016:ASD-11chrX:
53224196-53224196
TGexonicUnknownnonsynonymous SNVNM_001146702
NM_001282622
NM_004187
c.A3154C
c.A3352C
c.A3355C
p.M1052L
p.M1118L
p.M1119L
13.21-Alvarez-Mora2016 T
KDM5C     G01-GEA-236-HIchrX:
53239954-53239954
CAexonicDe novononsynonymous SNVNM_001146702
NM_001282622
NM_004187
c.G1286T
c.G1484T
c.G1487T
p.G429V
p.G495V
p.G496V
20.9-Satterstrom2020 E
KDM5C     Yamamoto2019:13chrX:
53243999-53243999
GAexonicMaternalstopgainNM_001146702
NM_001282622
NM_004187
c.C793T
c.C991T
c.C994T
p.R265X
p.R331X
p.R332X
43.0-Yamamoto2019 T
KDM5C     SJD_49chrX:
53240828-53240828
TCexonicMaternalnonsynonymous SNVNM_001146702
NM_001282622
NM_004187
c.A1051G
c.A1249G
c.A1252G
p.T351A
p.T417A
p.T418A
17.69-Toma2013 E
KDM5C     Chen2021:57chrX:
53246342-53246342
TTTexonicMaternalframeshift insertionNM_001146702
NM_001282622
NM_004187
c.439dupA
c.637dupA
c.640dupA
p.K147fs
p.K213fs
p.K214fs
--Chen2021 GET
Source Variant Information

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Source:

Paper alias:

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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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