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Results for "KDM5B"

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
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     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     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     AU4056302chr1:
202732312-202732312		ACintronicDe novo--Yuen2017 G
KDM5B     5H389chr1:
202719900-202719900		GAexonicDe novostopgainNM_006618
NM_001314042		c.C1708T
c.C1816T		p.R570X
p.R606X		43.08.266E-6Fu2022 E
KDM5B     NDAR_INVDR082LLL_wes1chr1:
202724403-202724403		GGCexonicDe novoframeshift insertionNM_006618
NM_001314042		c.1533dupG
c.1641dupG		p.H512fs
p.H548fs		--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
KDM5B     200675742_1082034788chr1:
202719900-202719900		GAexonicDe novostopgainNM_006618
NM_001314042		c.C1708T
c.C1816T		p.R570X
p.R606X		43.08.266E-6Fu2022 E
KDM5B     DEASD_0303_001chr1:
202742307-202742307		CGexonicDe novononsynonymous SNVNM_001314042
NM_006618		c.G515C
c.G515C		p.R172T
p.R172T		36.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KDM5B     SSC12704chr1:
202746219-202746219		ATexonicDe novononsynonymous SNVNM_001314042
NM_006618		c.T208A
c.T208A		p.W70R
p.W70R		27.1-Fu2022 E
KDM5B     08C74665chr1:
202743854-202743854		GAexonicDe novononsynonymous SNVNM_001314042
NM_006618		c.C292T
c.C292T		p.R98C
p.R98C		22.2-Fu2022 E
Satterstrom2020 E
KDM5B     12418_p1chr1:
202705466-202705466		GAexonicDe novostopgainNM_006618
NM_001314042		c.C3139T
c.C3247T		p.R1047X
p.R1083X		47.0-Fu2022 E
KDM5B     SP0067907chr1:
202724397-202724397		AGsplicingDe novosplicing15.05-Fu2022 E
KDM5B     SP0135501chr1:
202724408-202724408		TCexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.A1529G
c.A1637G		p.Y510C
p.Y546C		22.02.478E-5Fu2022 E
KDM5B     SP0015501chr1:
202722112-202722112		AGexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.T1622C
c.T1730C		p.L541P
p.L577P		28.1-Fu2022 E
KDM5B     SP0076596chr1:
202718208-202718208		ACexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.T1881G
c.T1989G		p.F627L
p.F663L		25.0-Fu2022 E
KDM5B     Mahjani2021:115chr1:
202702911-202702911		AATexonicframeshift insertionNM_006618
NM_001314042		c.3526dupA
c.3634dupA		p.I1176fs
p.I1212fs		--Mahjani2021 E
KDM5B     SP0035464chr1:
202722157-202722157		GAexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.C1577T
c.C1685T		p.A526V
p.A562V		35.0-Fu2022 E
KDM5B     SP0020815chr1:
202700977-202700977		GAexonicDe novostopgainNM_006618
NM_001314042		c.C4000T
c.C4108T		p.R1334X
p.R1370X		47.0-Fu2022 E
KDM5B     SP0001272chr1:
202698891-202698891		CCAexonicDe novostopgainNM_006618
NM_001314042		c.4440dupT
c.4548dupT		p.E1481_D1482delinsX
p.E1517_D1518delinsX		--Feliciano2019 E
Fu2022 E
KDM5B     SP0069075chr1:
202699134-202699134		GAexonicDe novostopgainNM_006618
NM_001314042		c.C4198T
c.C4306T		p.R1400X
p.R1436X		45.0-Fu2022 E
KDM5B     SP0067274chr1:
202743854-202743854		GAexonicDe novononsynonymous SNVNM_001314042
NM_006618		c.C292T
c.C292T		p.R98C
p.R98C		22.2-Fu2022 E
KDM5B     AU2109302chr1:
202718254-202718254		CTexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.G1835A
c.G1943A		p.R612Q
p.R648Q		36.08.351E-6Yuen2017 G
KDM5B     SP0009501chr1:
202718222-202718222		GAexonicDe novostopgainNM_006618
NM_001314042		c.C1867T
c.C1975T		p.R623X
p.R659X		43.0-Fu2022 E
KDM5B     AGG0052chr1:
202698246-202698246		ACexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.T4553G
c.T4661G		p.V1518G
p.V1554G		19.18-Fu2022 E
Satterstrom2020 E
KDM5B     SP0044923chr1:
202701054-202701054		GAexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.C3923T
c.C4031T		p.P1308L
p.P1344L		14.26-Fu2022 E
KDM5B     2-1364-003chr1:
202727533-202727534		TGTGGexonicDe novoframeshift insertionNM_006618
NM_001314042		c.1182dupC
c.1290dupC		p.F394fs
p.F430fs		--Yuen2017 G
KDM5B     SP0090223chr1:
202719801-202719801		AGexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.T1807C
c.T1915C		p.C603R
p.C639R		15.84-Fu2022 E
KDM5B     SSC08501chr1:
202715066-202715066		AGexonicDe novononsynonymous SNVNM_006618
NM_001314042		c.T2243C
c.T2351C		p.L748S
p.L784S		26.2-Fu2022 E
Lim2017 E
KDM5B     SP0067763chr1:
202742420-202742420		TCintronicDe novo--Fu2022 E
KDM5B     SSC08721chr1:
202698172-202698172		GAexonicDe novostopgainNM_006618
NM_001314042		c.C4627T
c.C4735T		p.R1543X
p.R1579X		43.0-Fu2022 E
Lim2017 E
KDM5B     SP0123106chr1:
202709783-202709783		TCintronicDe novo--Fu2022 E
KDM5B     A14chr1:
202749435-202749435		CGintronicDe novo--Wu2018 G
KDM5B     200675266@1082034477chr1:
202698146-202698146		GTUTR3De novo-8.24E-6Satterstrom2020 E
KDM5B     10C109063chr1:
202727533-202727533		TTGexonicDe novoframeshift insertionNM_006618
NM_001314042		c.1182dupC
c.1290dupC		p.N395fs
p.N431fs		--Fu2022 E
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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