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Results for "DNAJC6"

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
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     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     AU2950301chr1:
65829745-65829745
AGintronicDe novo--Yuen2017 G
DNAJC6     11501.p1chr1:
65866790-65866790
GAintronicDe novo--Wilfert2021 G
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:

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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