Variant Results

or

Results for "DNAH11"

Variant Events: 61

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

DNAH11

2-0219-004

chr7:
21707444-21707444

G

C

intronic

De novo

-

Yuen2017 G

DNAH11

5-0045-003

chr7:
21753018-21753018

T

C

intronic

De novo

-

Yuen2017 G

DNAH11

1-0591-003

chr7:
21649745-21649745

G

A

intronic

De novo

-

Yuen2017 G

DNAH11

1-0272-003

chr7:
21922041-21922041

G

C

intronic

De novo

-

Yuen2017 G

DNAH11

1-0925-003

chr7:
21663270-21663270

C

A

intronic

De novo

-

Yuen2017 G

DNAH11

2-1452-003

chr7:
21844311-21844311

C

G

intronic

De novo

-

Yuen2017 G

DNAH11

SSC08566

chr7:
21737764-21737764

A

G

exonic

De novo

nonsynonymous SNV

NM_001277115

c.A6113G

p.D2038G

13.28

-

Fu2022 E
Lim2017 E
Trost2022 G

DNAH11

SP0071781

chr7:
21775209-21775209

C

T

intronic

De novo

-

4.058E-5

Fu2022 E

DNAH11

mAGRE4831

chr7:
21932263-21932264

TG

T

exonic

De novo

frameshift deletion

NM_001277115

c.12729delG

p.L4243fs

-

Cirnigliaro2023 G

DNAH11

SP0003205

chr7:
21695644-21695644

A

G

intronic

De novo

-

2.807E-5

Fu2022 E

DNAH11

10-0010-003

chr7:
21939994-21940000

CATTAGA

TTCAAAAT

intronic

De novo

-

Trost2022 G

DNAH11

mAGRE1350

chr7:
21857833-21857833

A

G

splicing

Paternal

splicing

13.73

-

Cirnigliaro2023 G

DNAH11

200675722@1082034785

chr7:
21784131-21784131

C

T

exonic

De novo

nonsynonymous SNV

NM_001277115

c.C8230T

p.R2744C

21.4

9.937E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH11

mAGRE5158

chr7:
21757544-21757544

G

C

splicing

Paternal

splicing

24.6

-

Cirnigliaro2023 G

DNAH11

Shi2013:1

chr7:
21904177-21904177

G

C

exonic

Inherited

nonsynonymous SNV

NM_001277115

c.G11398C

p.D3800H

13.4

2.489E-5

Shi2013 G

DNAH11

2-1345-003

chr7:
21656275-21656275

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DNAH11

mAGRE4421

chr7:
21737829-21737829

C

T

exonic

Paternal

stopgain

NM_001277115

c.C6178T

p.Q2060X

48.0

-

Cirnigliaro2023 G

DNAH11

mAGRE2949

chr7:
21677228-21677228

G

A

splicing

Maternal

splicing

20.1

-

Cirnigliaro2023 G

DNAH11

mAGRE2016

chr7:
21675540-21675540

C

T

exonic

Maternal

stopgain

NM_001277115

c.C4552T

p.Q1518X

42.0

-

Cirnigliaro2023 G

DNAH11

NDAR_INVZH981YV9_wes1

chr7:
21747364-21747364

G

A

exonic

De novo

synonymous SNV

NM_001277115

c.G6594A

p.P2198P

-

2.0E-4

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

DNAH11

SP0098469

chr7:
21675736-21675736

G

A

intronic

De novo

-

Fu2022 E

DNAH11

SP0044367

chr7:
21631103-21631103

G

A

exonic

nonsynonymous SNV

NM_001277115

c.G2575A

p.A859T

0.58

-

Zhou2022 GE

DNAH11

AU3782303

chr7:
21659586-21659590

ATCAG

A

exonic

Maternal

frameshift deletion

NM_001277115

c.4391_4394del

p.I1464fs

-

9.959E-5

Cirnigliaro2023 G

DNAH11

UK10K_SKUSE5080317

chr7:
21765433-21765433

C

G

exonic

De novo

nonsynonymous SNV

NM_001277115

c.C7271G

p.S2424C

11.48

1.0E-4

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

DNAH11

SP0096746

chr7:
21894053-21894053

C

G

exonic

De novo

nonsynonymous SNV

NM_001277115

c.C11182G

p.L3728V

11.67

-

Fu2022 E
Zhou2022 GE

DNAH11

2-1258-004

chr7:
21902717-21902717

G

A

intronic

De novo

-

Yuen2017 G

DNAH11

1-0210-004

chr7:
21736002-21736002

A

G

intronic

De novo

-

Yuen2017 G

DNAH11

iHART1350

chr7:
21857833-21857833

A

G

splicing

Paternal

splicing

13.73

-

Ruzzo2019 G

DNAH11

iHART2949

chr7:
21677228-21677228

G

A

splicing

Maternal

splicing

20.1

-

Ruzzo2019 G

DNAH11

2-0198-005

chr7:
21752702-21752702

G

A

intronic

De novo

-

Yuen2017 G

DNAH11

AU3302302

chr7:
21592433-21592433

T

C

intronic

De novo

-

Yuen2017 G

DNAH11

A3

chr7:
21874738-21874738

A

C

intronic

De novo

-

Wu2018 G

DNAH11

AU3646301

chr7:
21784723-21784723

T

G

intronic

De novo

-

Yuen2017 G

DNAH11

1-0469-003

chr7:
21675848-21675848

C

G

intronic

De novo

-

Yuen2017 G

DNAH11

2-0022-005

chr7:
21767791-21767791

A

G

intronic

De novo

-

Yuen2017 G

DNAH11

200675722_1082034785

chr7:
21784131-21784131

C

T

exonic

De novo

nonsynonymous SNV

NM_001277115

c.C8230T

p.R2744C

21.4

9.937E-5

Fu2022 E

DNAH11

2-1183-003

chr7:
21809397-21809397

C

T

intronic

De novo

-

Yuen2017 G

DNAH11

2-1501-003

chr7:
21803391-21803391

A

G

intronic

De novo

-

Yuen2017 G

DNAH11

2-1361-003

chr7:
21841253-21841253

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DNAH11

SSC05691

chr7:
21583143-21583143

C

T

exonic

De novo

synonymous SNV

NM_001277115

c.C280T

p.L94L

-

Fu2022 E
Trost2022 G

DNAH11

13783_p1

chr7:
21582977-21582977

G

A

exonic

De novo

synonymous SNV

NM_001277115

c.G114A

p.E38E

-

Fu2022 E

DNAH11

2-0198-004

chr7:
21752702-21752702

G

A

intronic

De novo

-

Yuen2017 G

DNAH11

2-0198-004

chr7:
21628665-21628665

T

TAAAGCA

intronic

De novo

-

Yuen2017 G

DNAH11

36065

chr7:
21628122-21628122

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

DNAH11

12715.p1

chr7:
21583143-21583143

C

T

exonic

De novo

synonymous SNV

NM_001277115

c.C280T

p.L94L

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DNAH11

13915.p1

chr7:
21659676-21659676

G

C

exonic

De novo

nonsynonymous SNV

NM_001277115

c.G4480C

p.E1494Q

16.53

-

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

DNAH11

13774.p1

chr7:
21737764-21737764

A

G

exonic

De novo

nonsynonymous SNV

NM_001277115

c.A6113G

p.D2038G

13.28

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

DNAH11

A10

chr7:
21871994-21871994

C

T

intronic

De novo

-

Wu2018 G

DNAH11

11194.p1

chr7:
21932430-21932430

A

G

intronic

De novo

-

Turner2016 G

DNAH11

Shi2013:2

chr7:
21904177-21904177

G

C

exonic

Inherited

nonsynonymous SNV

NM_001277115

c.G11398C

p.D3800H

13.4

2.489E-5

Shi2013 G

DNAH11

2-1617-003

chr7:
21631756-21631756

C

A

intronic

De novo

-

Yuen2017 G

DNAH11

AU3807302

chr7:
21667328-21667333

TTGATG

TTGATGATG

intronic

De novo

-

Yuen2017 G

DNAH11

Costa2023:P9-1

chr7:
21584738-21584738

C

T

exonic

De novo

nonsynonymous SNV

NM_001277115

c.C466T

p.L156F

4.988

-

Costa2023 E

DNAH11

Uddin2014:12

chr7:
21737764-21737764

A

G

exonic

De novo

nonsynonymous SNV

NM_001277115

c.A6113G

p.D2038G

13.28

-

Uddin2014 E

DNAH11

006654790087-C

chr7:
21829016-21829016

C

G

intronic

De novo

-

Fu2022 E

DNAH11

AU3122301

chr7:
21860381-21860381

A

G

intronic

De novo

-

Yuen2017 G

DNAH11

14257.p1

chr7:
21628122-21628122

A

G

intronic

De novo

-

Satterstrom2020 E
Zhou2022 GE

DNAH11

1-0051-005

chr7:
21894223-21894223

A

G

intronic

De novo

-

Yuen2017 G

DNAH11

1-0051-004

chr7:
21894223-21894223

A

G

intronic

De novo

-

Yuen2017 G

DNAH11

13783.p1

chr7:
21582977-21582977

G

A

exonic

De novo

synonymous SNV

NM_001277115

c.G114A

p.E38E

-

Krumm2015 E
Satterstrom2020 E
Trost2022 G

DNAH11

2-1353-003

chr7:
21861341-21861341

C

T

intronic

De novo

-

Yuen2016 G
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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