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Results for "KDM5B"

Variant Events: 22

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
KDM5B     Mahjani2021:115chr1:
202702911-202702911
AATexonicframeshift insertionNM_006618
NM_001314042
c.3526dupA
c.3634dupA
p.I1176fs
p.I1212fs
--Mahjani2021 E
KDM5B     SP0001272chr1:
202698891-202698891
CCAexonicDe novostopgainNM_006618
NM_001314042
c.4440dupT
c.4548dupT
p.E1481_D1482delinsX
p.E1517_D1518delinsX
--Feliciano2019 E
KDM5B     13664.p1chr1:
202698172-202698172
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4627T
c.C4735T
p.R1543X
p.R1579X
43.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
KDM5B     12418.p1chr1:
202705466-202705466
GAexonicDe novostopgainNM_006618
NM_001314042
c.C3139T
c.C3247T
p.R1047X
p.R1083X
47.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
KDM5B     AU2109302chr1:
202718254-202718254
CTexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.G1835A
c.G1943A
p.R612Q
p.R648Q
36.08.351E-6Yuen2017 G
KDM5B     13631.p1chr1:
202715066-202715066
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T2243C
c.T2351C
p.L748S
p.L784S
26.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
KDM5B     Chen2017:122chr1:
202719900-202719900
GAexonicDe novostopgainNM_006618
NM_001314042
c.C1708T
c.C1816T
p.R570X
p.R606X
43.08.266E-6Chen2017 E
KDM5B     AGG0052chr1:
202698246-202698246
ACexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T4553G
c.T4661G
p.V1518G
p.V1554G
19.18-Satterstrom2020 E
KDM5B     14189.p1chr1:
202746219-202746219
ATexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.T208A
c.T208A
p.W70R
p.W70R
27.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
KDM5B     Al-Mubarak2017:ASD-19chr1:
202715044-202715044
GTexonicUnknownstopgainNM_006618
NM_001314042
c.C2265A
c.C2373A
p.Y755X
p.Y791X
41.03.295E-5Al-Mubarak2017 E
KDM5B     Husson2020:341chr1:
202699143-202699143
GAexonicstopgainNM_006618
NM_001314042
c.C4189T
c.C4297T
p.R1397X
p.R1433X
45.08.587E-6Husson2020 E
KDM5B     2-1364-003chr1:
202727533-202727534
TGTGGexonicDe novoframeshift insertionNM_006618
NM_001314042
c.1182dupC
c.1290dupC
p.F394fs
p.F430fs
--Yuen2017 G
KDM5B     AU4056302chr1:
202732312-202732312
ACintronicDe novo--Yuen2017 G
KDM5B     SSC08501chr1:
202715066-202715066
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T2243C
c.T2351C
p.L748S
p.L784S
26.2-Lim2017 E
KDM5B     SSC08721chr1:
202698172-202698172
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4627T
c.C4735T
p.R1543X
p.R1579X
43.0-Lim2017 E
KDM5B     NDAR_INVDR082LLL_wes1chr1:
202724403-202724403
GGCexonicDe novoframeshift insertionNM_006618
NM_001314042
c.1533dupG
c.1641dupG
p.H512fs
p.H548fs
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
KDM5B     A14chr1:
202749435-202749435
CGintronicDe novo--Wu2018 G
KDM5B     DEASD_0303_001chr1:
202742307-202742307
CGexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.G515C
c.G515C
p.R172T
p.R172T
36.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KDM5B     200675266@1082034477chr1:
202698146-202698146
GTUTR3De novo-8.24E-6Satterstrom2020 E
KDM5B     08C74665chr1:
202743854-202743854
GAexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.C292T
c.C292T
p.R98C
p.R98C
22.2-Satterstrom2020 E
KDM5B     10C109063chr1:
202727533-202727533
TTGexonicDe novoframeshift insertionNM_006618
NM_001314042
c.1182dupC
c.1290dupC
p.N395fs
p.N431fs
--Satterstrom2020 E
KDM5B     3B568chr1:
202736216-202736216
TAintronicDe novo--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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