Variant Results

or

Results for "DNAH7"

Variant Events: 38

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

1-0051-005

chr2:
196834084-196834088

ATAGT

A

intronic

De novo

-

Yuen2017 G

DNAH7

SP0091355

chr2:
196837148-196837148

C

A

exonic

De novo

stopgain

NM_018897

c.G1876T

p.E626X

36.0

-

Fu2022 E

DNAH7

SP0015436

chr2:
196774899-196774899

T

C

exonic

De novo

nonsynonymous SNV

NM_018897

c.A3956G

p.H1319R

15.11

-

Fu2022 E

DNAH7

SP0148328

chr2:
196786822-196786822

T

C

exonic

De novo

nonsynonymous SNV

NM_018897

c.A3925G

p.R1309G

17.75

-

Fu2022 E

DNAH7

AU3343301

chr2:
196899554-196899554

T

C

intronic

De novo

-

Yuen2017 G

DNAH7

5-0003-004

chr2:
196693606-196693606

T

A

intronic

De novo

-

Yuen2017 G

DNAH7

AU4269301

chr2:
196821448-196821448

C

A

intronic

De novo

-

Yuen2017 G

DNAH7

AU4378301

chr2:
196604483-196604483

G

A

intronic

De novo

-

Yuen2017 G

DNAH7

2-0503-003

chr2:
196860168-196860171

ACTT

A

intronic

De novo

-

Yuen2017 G

DNAH7

SP0071505

chr2:
196765249-196765249

G

A

intronic

De novo

-

Fu2022 E

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

Yuen2017 G

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

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

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

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

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

-

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

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

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

-

Yuen2017 G

DNAH7

1-0273-004

chr2:
196776295-196776295

A

C

intronic

De novo

-

Yuen2017 G

DNAH7

1-0299-004

chr2:
196769063-196769063

C

G

intronic

De novo

-

Yuen2017 G

DNAH7

AU050704

chr2:
196826176-196826176

G

T

intronic

De novo

-

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

DNAH7

2-0503-004

chr2:
196860168-196860171

ACTT

A

intronic

De novo

-

Yuen2017 G

DNAH7

1-0674-004

chr2:
196692285-196692285

T

G

intronic

De novo

-

Yuen2017 G

DNAH7

2-1370-003

chr2:
196908756-196908756

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

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

-

Yuen2017 G

DNAH7

2-1275-003

chr2:
196827713-196827716

TACC

T

intronic

De novo

-

Yuen2017 G

DNAH7

2-1567-003

chr2:
196702547-196702547

T

C

intronic

De novo

-

Yuen2017 G

DNAH7

08C79624

chr2:
196749550-196749550

A

C

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

DNAH7

AU4188302

chr2:
196968400-196968403

TCCC

TCCCC

intergenic

De novo

-

Yuen2017 G

DNAH7

1-0032-003

chr2:
196733929-196733929

A

C

intronic

De novo

-

Yuen2017 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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