Variant Results

or

Results for "DNAH7"

Variant Events: 64

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

DNAH7

AU3343301

chr2:
196899554-196899554

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

5-0003-004

chr2:
196693606-196693606

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

2-1506-003

chr2:
196877611-196877611

T

C

exonic

De novo

nonsynonymous SNV

NM_018897

c.A889G

p.I297V

3.366

8.501E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

DNAH7

AU02404

chr2:
196640603-196640603

A

C

exonic

De novo

synonymous SNV

NM_018897

c.T11169G

p.T3723T

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH7

DEASD_0020_001

chr2:
196729541-196729541

C

A

exonic

De novo

nonsynonymous SNV

NM_018897

c.G6838T

p.D2280Y

14.39

-

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

DNAH7

JASD_Fam0040

chr2:
196891487-196891487

T

C

exonic

De novo

nonsynonymous SNV

NM_018897

c.A664G

p.I222V

17.51

8.473E-6

Takata2018 E

DNAH7

2-1189-003

chr2:
196992985-196992985

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DNAH7

SSC08767

chr2:
196759791-196759791

C

T

exonic

De novo

nonsynonymous SNV

NM_018897

c.G4805A

p.R1602H

33.0

3.322E-5

Fu2022 E
Lim2017 E
Trost2022 G

DNAH7

4-0085-003

chr2:
196717667-196717673

GAGAGAC

G

intronic

De novo

-

Trost2022 G

DNAH7

1-0589-003

chr2:
196750249-196750250

TA

T

intronic

De novo

-

Trost2022 G

DNAH7

3-0080-000

chr2:
196678019-196678019

C

A

intronic

De novo

-

Trost2022 G

DNAH7

1-0273-004

chr2:
196776295-196776295

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

3-0146-000

chr2:
196701138-196701138

G

C

intronic

De novo

-

Trost2022 G

DNAH7

10-1149-003

chr2:
196622296-196622296

G

A

intronic

De novo

-

Trost2022 G

DNAH7

1-0299-004

chr2:
196769063-196769063

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

2-1773-003

chr2:
196639859-196639859

A

G

intronic

De novo

-

Trost2022 G

DNAH7

1-1034-003

chr2:
196612025-196612025

A

G

intronic

De novo

-

Trost2022 G

DNAH7

MSSNG00364-004

chr2:
196930709-196930709

T

C

intronic

De novo

-

Trost2022 G

DNAH7

2-0503-004

chr2:
196860168-196860171

ACTT

A

intronic

De novo

-

Yuen2017 G

DNAH7

REACH000097

chr2:
196912057-196912057

G

A

intronic

De novo

-

Trost2022 G

DNAH7

MT_167.3

chr2:
196914341-196914341

T

C

intronic

De novo

-

Trost2022 G

DNAH7

1-0674-004

chr2:
196692285-196692285

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

MT_192.3

chr2:
196882465-196882465

T

C

intronic

De novo

-

Trost2022 G

DNAH7

2-1370-003

chr2:
196908756-196908756

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DNAH7

1-1005-005A

chr2:
196885694-196885694

A

G

intronic

De novo

-

Trost2022 G

DNAH7

SP0202163

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, synonymous SNV

NM_018897
NM_018897

c.G4346T
c.G4347T

p.R1449L
p.R1449R

28.3

-

Trost2022 G
Trost2022 G

DNAH7

1-1011-003

chr2:
196875694-196875694

G

T

intronic

De novo

-

Trost2022 G

DNAH7

mAGRE5032

chr2:
196682484-196682484

G

A

exonic

Maternal

stopgain

NM_018897

c.C9361T

p.Q3121X

49.0

1.679E-5

Cirnigliaro2023 G

DNAH7

mAGRE5313

chr2:
196664198-196664198

T

C

splicing

Paternal

splicing

16.7

-

Cirnigliaro2023 G

DNAH7

mAGRE2186

chr2:
196651812-196651812

C

T

exonic

Maternal

stopgain

NM_018897

c.G10800A

p.W3600X

34.0

-

Cirnigliaro2023 G

DNAH7

2-1567-003

chr2:
196702547-196702547

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

mAGRE5917

chr2:
196912113-196912113

G

A

exonic

Maternal

stopgain

NM_018897

c.C361T

p.R121X

15.06

0.001

Cirnigliaro2023 G

DNAH7

mAGRE5916

chr2:
196912113-196912113

G

A

exonic

Maternal

stopgain

NM_018897

c.C361T

p.R121X

15.06

0.001

Cirnigliaro2023 G

DNAH7

1-0032-003

chr2:
196733929-196733929

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

mAGRE2940

chr2:
196912113-196912113

G

A

exonic

Maternal

stopgain

NM_018897

c.C361T

p.R121X

15.06

0.001

Cirnigliaro2023 G

DNAH7

AU3712302

chr2:
196889150-196889154

TACTC

T

exonic

Maternal

frameshift deletion

NM_018897

c.742_743del

p.E248fs

-

1.0E-4

Cirnigliaro2023 G

DNAH7

AU3875301

chr2:
196786864-196786865

GA

G

exonic

Paternal

frameshift deletion

NM_018897

c.3882delT

p.Y1294fs

-

1.665E-5

Cirnigliaro2023 G

DNAH7

mAGRE4389

chr2:
196771409-196771409

G

A

exonic

Maternal

stopgain

NM_018897

c.C4309T

p.R1437X

45.0

4.0E-4

Cirnigliaro2023 G

DNAH7

mAGRE4366

chr2:
196756493-196756495

AAC

A

exonic

Paternal

frameshift deletion

NM_018897

c.4930_4931del

p.V1644fs

-

Cirnigliaro2023 G

DNAH7

AU4033304

chr2:
196756416-196756416

A

ACC

exonic

Maternal

frameshift insertion

NM_018897

c.5008_5009insGG

p.V1670fs

-

Cirnigliaro2023 G

DNAH7

1-0051-005

chr2:
196834084-196834088

ATAGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

SP0091355

chr2:
196837148-196837148

C

A

exonic

De novo

stopgain

NM_018897

c.G1876T

p.E626X

36.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH7

SP0015436

chr2:
196774899-196774899

T

C

exonic

De novo

nonsynonymous SNV

NM_018897

c.A3956G

p.H1319R

15.11

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH7

SP0148328

chr2:
196786822-196786822

T

C

exonic

De novo

nonsynonymous SNV

NM_018897

c.A3925G

p.R1309G

17.75

-

Fu2022 E

DNAH7

AU4269301

chr2:
196821448-196821448

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

AU4378301

chr2:
196604483-196604483

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

2-0503-003

chr2:
196860168-196860171

ACTT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

SP0071505

chr2:
196765249-196765249

G

A

intronic

De novo

-

Fu2022 E

DNAH7

2-1380-003

chr2:
196979435-196979435

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DNAH7

152587

chr2:
196636412-196636412

G

A

exonic

De novo

nonsynonymous SNV

NM_018897

c.C11405T

p.S3802L

16.56

8.281E-6

Fu2022 E

DNAH7

iHART2186

chr2:
196651812-196651812

C

T

exonic

Maternal

stopgain

NM_018897

c.G10800A

p.W3600X

34.0

-

Ruzzo2019 G

DNAH7

1-0051-004

chr2:
196834084-196834088

ATAGT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

iHART2940

chr2:
196912113-196912113

G

A

exonic

Maternal

stopgain

NM_018897

c.C361T

p.R121X

15.06

0.001

Ruzzo2019 G

DNAH7

iHART3268

chr2:
196756416-196756416

A

ACC

exonic

Maternal

frameshift insertion

NM_018897

c.5008_5009insGG

p.V1670fs

-

Ruzzo2019 G

DNAH7

2-1174-005B

chr2:
196609820-196609820

A

G

intronic

De novo

-

Yuen2017 G

DNAH7

3-0185-000

chr2:
196619865-196619865

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

AU050704

chr2:
196826176-196826176

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

13619.p1

chr2:
196759791-196759791

C

T

exonic

De novo

nonsynonymous SNV

NM_018897

c.G4805A

p.R1602H

33.0

3.322E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DNAH7

1-0375-003

chr2:
196878144-196878144

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DNAH7

7-0249-003

chr2:
196881068-196881068

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

2-1275-003

chr2:
196827713-196827716

TACC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH7

08C79624

chr2:
196749550-196749550

A

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

DNAH7

AU4188302

chr2:
196968400-196968403

TCCC

TCCCC

intergenic

De novo

-

Yuen2017 G

DNAH7

MSSNG00102-003

chr2:
196681494-196681494

C

G

exonic

De novo

nonsynonymous SNV

NM_018897

c.G9619C

p.A3207P

15.94

-

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