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Results for "DNAJC6"

Variant Events: 29

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
DNAJC6     Lim2017:70272chr1:
65858181-65858181		AGexonicDe novosynonymous SNVNM_001256864
NM_014787
NM_001256865		c.A1536G
c.A1365G
c.A1326G		p.Q512Q
p.Q455Q
p.Q442Q		--Lim2017 E
DNAJC6     1-0214-003chr1:
65769065-65769069		CATATCATintronicDe novo--Yuen2017 G
DNAJC6     iHART2112chr1:
65849884-65849884		GGGCexonicPaternalframeshift insertionNM_001256864
NM_014787
NM_001256865		c.675_676insGC
c.504_505insGC
c.465_466insGC		p.R225fs
p.R168fs
p.R155fs		--Ruzzo2019 G
DNAJC6     11841.p1chr1:
65858181-65858181		AGexonicDe novosynonymous SNVNM_001256864
NM_014787
NM_001256865		c.A1536G
c.A1365G
c.A1326G		p.Q512Q
p.Q455Q
p.Q442Q		--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
DNAJC6     iHART1589chr1:
65831805-65831806		TCTexonicMaternalframeshift deletionNM_001256864
NM_014787
NM_001256865		c.470delC
c.299delC
c.260delC		p.S157fs
p.S100fs
p.S87fs		--Ruzzo2019 G
DNAJC6     03C23216chr1:
65831806-65831807		CCCexonicInheritedframeshift deletionNM_001256864
NM_014787
NM_001256865		c.471delC
c.300delC
c.261delC		p.S157fs
p.S100fs
p.S87fs		--Stessman2017 T
DNAJC6     D2P3Nchr1:
65874429-65874429		AGexonicUnknownnonsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.A2597G
c.A2426G
c.A2387G		p.E866G
p.E809G
p.E796G		28.3-Stessman2017 T
DNAJC6     iHART2111chr1:
65849884-65849884		GGGCexonicPaternalframeshift insertionNM_001256864
NM_014787
NM_001256865		c.675_676insGC
c.504_505insGC
c.465_466insGC		p.R225fs
p.R168fs
p.R155fs		--Ruzzo2019 G
DNAJC6     7-0035-003chr1:
65781393-65781393		GTintronicDe novo--Yuen2017 G
DNAJC6     1-0345-003chr1:
65823893-65823900		ATGAATGTAintronicDe novo--Yuen2017 G
DNAJC6     2-1334-003chr1:
65879430-65879430		CTUTR3De novo--Yuen2016 G
Yuen2017 G
DNAJC6     03C15426chr1:
65849883-65849883		GAexonicUnknownnonsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.G674A
c.G503A
c.G464A		p.R225Q
p.R168Q
p.R155Q		28.31.743E-5Stessman2017 T
DNAJC6     5901026096961-Cchr1:
65855296-65855296		CTexonicDe novononsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.C1454T
c.C1283T
c.C1244T		p.S485F
p.S428F
p.S415F		24.0-Fu2022 E
DNAJC6     M15090chr1:
65877002-65877002		TGexonicUnknownnonsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.T2704G
c.T2533G
c.T2494G		p.W902G
p.W845G
p.W832G		21.9-Stessman2017 T
DNAJC6     M30973chr1:
65858549-65858549		GAsplicingMaternalsplicing13.46-Guo2018 T
DNAJC6     AU1453302chr1:
65849885-65849887		GCGGCGCGexonicInheritedframeshift insertionNM_001256864
NM_014787
NM_001256865		c.678_679insCG
c.507_508insCG
c.468_469insCG		p.A226fs
p.A169fs
p.A156fs		--Stessman2017 T
DNAJC6     12793.p1chr1:
65804581-65804581		ATintronicDe novo--Turner2016 G
DNAJC6     70272chr1:
65858181-65858181		AGexonicDe novosynonymous SNVNM_001256864
NM_014787
NM_001256865		c.A1536G
c.A1365G
c.A1326G		p.Q512Q
p.Q455Q
p.Q442Q		--Fu2022 E
DNAJC6     AU2950301chr1:
65829745-65829745		AGintronicDe novo--Yuen2017 G
DNAJC6     SP0111554chr1:
65855247-65855247		ATexonicDe novononsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.A1405T
c.A1234T
c.A1195T		p.I469F
p.I412F
p.I399F		11.88-Fu2022 E
DNAJC6     11501.p1chr1:
65866790-65866790		GAintronicDe novo--Wilfert2021 G
DNAJC6     SP0001063chr1:
65860641-65860641		CGexonicDe novononsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.C1964G
c.C1793G
c.C1754G		p.S655C
p.S598C
p.S585C		16.83-Fu2022 E
DNAJC6     07C65863chr1:
65849885-65849887		GCGGCGCGexonicInheritedframeshift insertionNM_001256864
NM_014787
NM_001256865		c.678_679insCG
c.507_508insCG
c.468_469insCG		p.A226fs
p.A169fs
p.A156fs		--Stessman2017 T
DNAJC6     M17551chr1:
65871792-65871792		CTexonicUnknownnonsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.C2467T
c.C2296T
c.C2257T		p.R823C
p.R766C
p.R753C		15.884.154E-5Stessman2017 T
DNAJC6     1-0874-003chr1:
65840329-65840329		CTintronicDe novo--Yuen2017 G
DNAJC6     2-0286-003chr1:
65754531-65754531		AGintronicDe novo--Yuen2017 G
DNAJC6     M18393chr1:
65871591-65871591		GAexonicUnknownnonsynonymous SNVNM_001256864
NM_014787
NM_001256865		c.G2266A
c.G2095A
c.G2056A		p.G756R
p.G699R
p.G686R		27.2-Stessman2017 T
DNAJC6     1-0404-003chr1:
65783294-65783294		CAintronicDe novo--Yuen2017 G
DNAJC6     7-0166-003chr1:
65829961-65829961		TAintronicDe novo--Yuen2017 G
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
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