Variant Results

or

Results for "DNAH2"

Variant Events: 53

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

DNAH2

SP0029029

chr17:
7700945-7700945

G

C

intronic

De novo

-

Fu2022 E

DNAH2

13830.p1

chr17:
7630508-7630508

T

C

exonic

De novo

synonymous SNV

NM_001303270
NM_020877

c.T297C
c.T297C

p.D99D
p.D99D

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

DNAH2

11712.p1

chr17:
7691349-7691349

A

G

intronic

De novo

-

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G

DNAH2

14501.p1

chr17:
7720741-7720741

G

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DNAH2

14125.p1

chr17:
7721432-7721432

A

G

intronic

De novo

-

8.251E-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DNAH2

AU4067301

chr17:
7687663-7687663

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH2

113-07-107909

chr17:
7736953-7736953

C

T

UTR3

De novo

-

Satterstrom2020 E
Trost2022 G

DNAH2

63-343

chr17:
7627295-7627295

A

G

intronic

De novo

-

Michaelson2012 G

DNAH2

AU4056302

chr17:
7633711-7633711

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH2

5-1042-003

chr17:
7707225-7707225

C

T

intronic

De novo

-

Trost2022 G

DNAH2

7-0240-004

chr17:
7707503-7707503

G

A

intronic

De novo

-

Trost2022 G

DNAH2

SP0126692

chr17:
7710540-7710540

T

C

exonic

De novo

nonsynonymous SNV

NM_020877

c.T9515C

p.I3172T

22.3

7.429E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH2

1-0252-003

chr17:
7678824-7678824

A

T

intronic

De novo

-

Trost2022 G

DNAH2

SP0082029

chr17:
7637883-7637883

G

T

exonic

De novo

stopgain

NM_001303270
NM_020877

c.G835T
c.G835T

p.E279X
p.E279X

36.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH2

1-0252-003

chr17:
7678839-7678839

G

A

intronic

De novo

-

Trost2022 G

DNAH2

4-0049-003

chr17:
7649745-7649745

C

T

intronic

De novo

-

Trost2022 G

DNAH2

AU2299301

chr17:
7664765-7664765

T

A

intronic

De novo

-

Trost2022 G

DNAH2

7-0365-003

chr17:
7641223-7641226

GAGA

G

intronic

De novo

-

Trost2022 G

DNAH2

SP0071563

chr17:
7644037-7644037

C

G

intronic

De novo

-

Fu2022 E

DNAH2

MT_61.3

chr17:
7731950-7731950

C

T

intronic

De novo

-

Trost2022 G

DNAH2

SP0034578

chr17:
7623207-7623207

A

G

exonic

De novo

nonsynonymous SNV

NM_001303270
NM_020877

c.A155G
c.A155G

p.K52R
p.K52R

13.03

6.811E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH2

SP0244940

chr17:
7721279-7721279

G

C

exonic

De novo

nonsynonymous SNV

NM_020877

c.G10252C

p.D3418H

18.71

-

Trost2022 G

DNAH2

SP0139217

chr17:
7724677-7724677

G

A

exonic

De novo

nonsynonymous SNV

NM_020877

c.G11132A

p.R3711H

29.0

4.25E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH2

SSC10671

chr17:
7721432-7721432

A

G

intronic

De novo

-

8.251E-6

Trost2022 G

DNAH2

SP0141571

chr17:
7727555-7727555

C

T

exonic

De novo

synonymous SNV

NM_020877

c.C11595T

p.H3865H

-

7.78E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH2

7-0320-003

chr17:
7715671-7715671

C

T

intronic

De novo

-

Trost2022 G

DNAH2

SP0123833

chr17:
7696364-7696364

C

T

exonic

De novo

synonymous SNV

NM_020877

c.C7410T

p.Y2470Y

-

3.297E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH2

MSSNG00029-004

chr17:
7720696-7720696

A

G

exonic

De novo

nonsynonymous SNV

NM_020877

c.A9983G

p.Y3328C

19.08

-

Trost2022 G

DNAH2

G01-GEA-58-HI

chr17:
7734751-7734751

T

C

exonic

De novo

nonsynonymous SNV

NM_020877

c.T12503C

p.M4168T

3.733

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH2

11712_p1

chr17:
7691349-7691349

A

G

intronic

De novo

-

2.0E-4

Fu2022 E

DNAH2

1-0898-003

chr17:
7736413-7736413

T

C

exonic

De novo

nonsynonymous SNV

NM_020877

c.T13003C

p.Y4335H

21.8

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

DNAH2

iHART2665

chr17:
7736074-7736074

G

C

splicing

Maternal

splicing

17.36

8.238E-6

Ruzzo2019 G

DNAH2

SSC09360

chr17:
7630508-7630508

T

C

exonic

De novo

synonymous SNV

NM_001303270
NM_020877

c.T297C
c.T297C

p.D99D
p.D99D

-

Fu2022 E
Trost2022 G

DNAH2

08C75730

chr17:
7699902-7699902

G

A

exonic

De novo

nonsynonymous SNV

NM_020877

c.G7795A

p.V2599M

17.92

5.767E-5

Fu2022 E

DNAH2

iHART1412

chr17:
7719991-7719991

C

T

exonic

Paternal

stopgain

NM_020877

c.C9832T

p.R3278X

51.0

2.471E-5

Ruzzo2019 G

DNAH2

iHART2435

chr17:
7734495-7734497

CCT

C

exonic

Maternal

frameshift deletion

NM_020877

c.12323_12324del

p.P4108fs

-

2.471E-5

Ruzzo2019 G

DNAH2

Wang2023:718

chr17:
7696498-7696498

C

T

exonic

De novo

nonsynonymous SNV

NM_020877

c.C7544T

p.T2515M

3.068

9.072E-5

Wang2023 E

DNAH2

iHART2944

chr17:
7733981-7733982

AG

A

exonic

Maternal

frameshift deletion

NM_020877

c.12052delG

p.E4018fs

-

1.65E-5

Ruzzo2019 G

DNAH2

mAGRE2665

chr17:
7736074-7736074

G

C

splicing

Maternal

splicing

17.36

8.238E-6

Cirnigliaro2023 G

DNAH2

mAGRE2435

chr17:
7734495-7734497

CCT

C

exonic

Maternal

frameshift deletion

NM_020877

c.12323_12324del

p.P4108fs

-

2.471E-5

Cirnigliaro2023 G

DNAH2

2-1195-003

chr17:
7699902-7699902

G

A

exonic

De novo

nonsynonymous SNV

NM_020877

c.G7795A

p.V2599M

17.92

5.767E-5

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

DNAH2

AU2525302

chr17:
7733981-7733982

AG

A

exonic

Maternal

frameshift deletion

NM_020877

c.12052delG

p.E4018fs

-

1.65E-5

Cirnigliaro2023 G

DNAH2

mAGRE1412

chr17:
7719991-7719991

C

T

exonic

Paternal

stopgain

NM_020877

c.C9832T

p.R3278X

51.0

2.471E-5

Cirnigliaro2023 G

DNAH2

37371

chr17:
7720741-7720741

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

DNAH2

ASDFI_1583

chr17:
7660448-7660448

G

A

exonic

De novo

synonymous SNV

NM_020877

c.G1944A

p.E648E

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH2

DEASD_0173_001

chr17:
7671509-7671509

A

T

exonic

De novo

nonsynonymous SNV

NM_020877

c.A3865T

p.T1289S

11.71

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH2

AU057404

chr17:
7634351-7634351

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH2

mAGRE4099

chr17:
7736237-7736239

TCC

T

exonic

Paternal

frameshift deletion

NM_020877

c.12970_12971del

p.P4324fs

-

8.237E-6

Cirnigliaro2023 G

DNAH2

5-0050-004

chr17:
7633902-7633902

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH2

GM173276

chr17:
7733666-7733666

C

T

exonic

De novo

stopgain

NM_020877

c.C11902T

p.Q3968X

52.0

-

Fu2022 E

DNAH2

MSSNG00029-003

chr17:
7681760-7681760

G

A

exonic

De novo

nonsynonymous SNV

NM_020877

c.G5514A

p.M1838I

16.12

-

Trost2022 G
Zhou2022 GE

DNAH2

07C69352

chr17:
7673709-7673709

G

A

exonic

De novo

nonsynonymous SNV

NM_020877

c.G4081A

p.E1361K

32.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH2

13007.p1

chr17:
7708621-7708621

C

T

exonic

De novo

nonsynonymous SNV

NM_020877

c.C9352T

p.R3118W

22.5

8.239E-6

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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
	More