Variant Results

or

Results for "DNAJC6"

Variant Events: 43

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

Lim2017:70272

chr1:
65858181-65858181

A

G

exonic

De novo

synonymous SNV

NM_001256864
NM_014787
NM_001256865

c.A1536G
c.A1365G
c.A1326G

p.Q512Q
p.Q455Q
p.Q442Q

-

Lim2017 E

DNAJC6

1-0214-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

iHART2112

chr1:
65849884-65849884

G

GGC

exonic

Paternal

frameshift insertion

NM_001256864
NM_014787
NM_001256865

c.675_676insGC
c.504_505insGC
c.465_466insGC

p.R225fs
p.R168fs
p.R155fs

-

Ruzzo2019 G

DNAJC6

11841.p1

chr1:
65858181-65858181

A

G

exonic

De novo

synonymous SNV

NM_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
Zhou2022 GE

DNAJC6

iHART1589

chr1:
65831805-65831806

TC

T

exonic

Maternal

frameshift deletion

NM_001256864
NM_014787
NM_001256865

c.470delC
c.299delC
c.260delC

p.S157fs
p.S100fs
p.S87fs

-

Ruzzo2019 G

DNAJC6

03C23216

chr1:
65831806-65831807

CC

C

exonic

Inherited

frameshift deletion

NM_001256864
NM_014787
NM_001256865

c.471delC
c.300delC
c.261delC

p.S157fs
p.S100fs
p.S87fs

-

Stessman2017 T

DNAJC6

D2P3N

chr1:
65874429-65874429

A

G

exonic

Unknown

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.A2597G
c.A2426G
c.A2387G

p.E866G
p.E809G
p.E796G

28.3

-

Stessman2017 T

DNAJC6

iHART2111

chr1:
65849884-65849884

G

GGC

exonic

Paternal

frameshift insertion

NM_001256864
NM_014787
NM_001256865

c.675_676insGC
c.504_505insGC
c.465_466insGC

p.R225fs
p.R168fs
p.R155fs

-

Ruzzo2019 G

DNAJC6

7-0035-003

chr1:
65781393-65781393

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

1-0345-003

chr1:
65823893-65823900

ATGAATGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

2-1334-003

chr1:
65879430-65879430

C

T

UTR3

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DNAJC6

03C15426

chr1:
65849883-65849883

G

A

exonic

Unknown

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.G674A
c.G503A
c.G464A

p.R225Q
p.R168Q
p.R155Q

28.3

1.743E-5

Stessman2017 T

DNAJC6

5901026096961-C

chr1:
65855296-65855296

C

T

exonic

De novo

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.C1454T
c.C1283T
c.C1244T

p.S485F
p.S428F
p.S415F

24.0

-

Fu2022 E

DNAJC6

M15090

chr1:
65877002-65877002

T

G

exonic

Unknown

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.T2704G
c.T2533G
c.T2494G

p.W902G
p.W845G
p.W832G

21.9

-

Stessman2017 T

DNAJC6

M30973

chr1:
65858549-65858549

G

A

splicing

Maternal

splicing

13.46

-

Guo2018 T

DNAJC6

AU1453302

chr1:
65849885-65849887

GCG

GCGCG

exonic

Inherited

frameshift insertion

NM_001256864
NM_014787
NM_001256865

c.678_679insCG
c.507_508insCG
c.468_469insCG

p.A226fs
p.A169fs
p.A156fs

-

Stessman2017 T

DNAJC6

SP0027434

chr1:
65845193-65845193

G

T

exonic

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.G652T
c.G481T
c.G442T

p.V218F
p.V161F
p.V148F

29.1

-

Zhou2022 GE

DNAJC6

12793.p1

chr1:
65804581-65804581

A

T

intronic

De novo

-

Turner2016 G

DNAJC6

70272

chr1:
65858181-65858181

A

G

exonic

De novo

synonymous SNV

NM_001256864
NM_014787
NM_001256865

c.A1536G
c.A1365G
c.A1326G

p.Q512Q
p.Q455Q
p.Q442Q

-

Fu2022 E
Trost2022 G

DNAJC6

AU2950301

chr1:
65829745-65829745

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

SP0111554

chr1:
65855247-65855247

A

T

exonic

De novo

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.A1405T
c.A1234T
c.A1195T

p.I469F
p.I412F
p.I399F

11.88

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAJC6

11501.p1

chr1:
65866790-65866790

G

A

intronic

De novo

-

Wilfert2021 G

DNAJC6

SP0001063

chr1:
65860641-65860641

C

G

exonic

De novo

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.C1964G
c.C1793G
c.C1754G

p.S655C
p.S598C
p.S585C

16.83

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAJC6

2-1491-003

chr1:
65756118-65756119

GT

AA

intronic

De novo

-

Trost2022 G

DNAJC6

mAGRE2111

chr1:
65849884-65849884

G

GGC

exonic

Paternal

frameshift insertion

NM_001256864
NM_014787
NM_001256865

c.675_676insGC
c.504_505insGC
c.465_466insGC

p.R225fs
p.R168fs
p.R155fs

-

Cirnigliaro2023 G

DNAJC6

4-0075-003

chr1:
65741854-65741854

C

T

intronic

De novo

-

Trost2022 G

DNAJC6

mAGRE1589

chr1:
65831805-65831806

TC

T

exonic

Maternal

frameshift deletion

NM_001256864
NM_014787
NM_001256865

c.470delC
c.299delC
c.260delC

p.S157fs
p.S100fs
p.S87fs

-

Cirnigliaro2023 G

DNAJC6

07C65863

chr1:
65849885-65849887

GCG

GCGCG

exonic

Inherited

frameshift insertion

NM_001256864
NM_014787
NM_001256865

c.678_679insCG
c.507_508insCG
c.468_469insCG

p.A226fs
p.A169fs
p.A156fs

-

Stessman2017 T

DNAJC6

7-0458-003

chr1:
65814677-65814679

ATG

A

intronic

De novo

-

Trost2022 G

DNAJC6

1-1191-003

chr1:
65768183-65768183

A

C

intronic

De novo

-

Trost2022 G

DNAJC6

M17551

chr1:
65871792-65871792

C

T

exonic

Unknown

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.C2467T
c.C2296T
c.C2257T

p.R823C
p.R766C
p.R753C

15.88

4.154E-5

Stessman2017 T

DNAJC6

1-0203-003

chr1:
65738508-65738510

CCA

TAC

intronic

De novo

-

Trost2022 G

DNAJC6

1-0874-003

chr1:
65840329-65840329

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

2-0286-003

chr1:
65754531-65754531

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

Wang2023:452

chr1:
65874398-65874398

G

A

exonic

De novo

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.G2566A
c.G2395A
c.G2356A

p.G856R
p.G799R
p.G786R

30.0

-

Wang2023 E

DNAJC6

M18393

chr1:
65871591-65871591

G

A

exonic

Unknown

nonsynonymous SNV

NM_001256864
NM_014787
NM_001256865

c.G2266A
c.G2095A
c.G2056A

p.G756R
p.G699R
p.G686R

27.2

-

Stessman2017 T

DNAJC6

1-0404-003

chr1:
65783294-65783294

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

7-0287-003

chr1:
65821712-65821712

C

A

intronic

De novo

-

Trost2022 G

DNAJC6

MSSNG00255-003

chr1:
65818298-65818298

T

C

intronic

De novo

-

Trost2022 G

DNAJC6

2-1760-003

chr1:
65859811-65859811

C

G

intronic

De novo

-

Trost2022 G

DNAJC6

7-0166-003

chr1:
65829961-65829961

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAJC6

5-5046-006

chr1:
65855080-65855080

C

T

exonic

De novo

synonymous SNV

NM_001256864
NM_014787
NM_001256865

c.C1335T
c.C1164T
c.C1125T

p.P445P
p.P388P
p.P375P

-

Trost2022 G

DNAJC6

mAGRE2112

chr1:
65849884-65849884

G

GGC

exonic

Paternal

frameshift insertion

NM_001256864
NM_014787
NM_001256865

c.675_676insGC
c.504_505insGC
c.465_466insGC

p.R225fs
p.R168fs
p.R155fs

-

Cirnigliaro2023 G

Source Variant Information

, -

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 notes	View
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