Variant Results

or

Results for "DNAH8"

Variant Events: 34

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

DNAH8

AU2463301

chr6:
38766461-38766461

G

A

intronic

De novo

-

Trost2022 G

DNAH8

mAGRE2020

chr6:
38941590-38941590

G

A

splicing

Maternal

splicing

23.5

-

Cirnigliaro2023 G

DNAH8

MSSNG00331-003

chr6:
38769083-38769083

A

G

intronic

De novo

-

Trost2022 G

DNAH8

mAGRE1876

chr6:
38939412-38939412

C

T

exonic

Maternal

stopgain

NM_001206927

c.C12496T

p.R4166X

53.0

1.0E-4

Cirnigliaro2023 G

DNAH8

2-1223-003

chr6:
38739965-38739965

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH8

mAGRE4168

chr6:
38897443-38897443

G

A

splicing

Paternal

splicing

23.0

1.72E-5

Cirnigliaro2023 G

DNAH8

7-0024-003

chr6:
38872753-38872753

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH8

MSSNG00437-003

chr6:
38706191-38706191

T

C

intronic

De novo

-

Trost2022 G

DNAH8

mAGRE5852

chr6:
38867683-38867683

G

A

splicing

Paternal

splicing

32.0

1.037E-5

Cirnigliaro2023 G

DNAH8

mAGRE5850

chr6:
38867683-38867683

G

A

splicing

Paternal

splicing

32.0

1.037E-5

Cirnigliaro2023 G

DNAH8

mAGRE4958

chr6:
38810258-38810259

AG

A

exonic

Maternal

frameshift deletion

NM_001206927

c.4582delG

p.E1528fs

-

8.302E-6

Cirnigliaro2023 G

DNAH8

4-0002-003

chr6:
38967640-38967640

A

C

intronic

De novo

-

Trost2022 G

DNAH8

SP0042245

chr6:
38976641-38976641

A

G

exonic

De novo

synonymous SNV

NM_001206927

c.A13266G

p.Q4422Q

-

Fu2022 E
Zhou2022 GE

DNAH8

MSSNG00184-003

chr6:
38986497-38986497

G

A

intronic

De novo

-

Trost2022 G

DNAH8

V5T5W_01

chr6:
38962857-38962857

G

T

intronic

De novo

-

Trost2022 G

DNAH8

SP0034375

chr6:
38879260-38879262

CAT

C

exonic

De novo

frameshift deletion

NM_001206927

c.9758_9759del

p.H3253fs

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNAH8

REACH000096

chr6:
38861227-38861227

C

T

intronic

De novo

-

Trost2022 G

DNAH8

SP0139309

chr6:
38854575-38854575

T

G

exonic

De novo

nonsynonymous SNV

NM_001206927

c.T8268G

p.N2756K

19.04

-

Fu2022 E

DNAH8

2-0205-003

chr6:
38774474-38774474

G

A

intronic

De novo

-

Trost2022 G

DNAH8

SP0136779

chr6:
38854575-38854575

T

G

exonic

De novo

nonsynonymous SNV

NM_001206927

c.T8268G

p.N2756K

19.04

-

Fu2022 E

DNAH8

REACH000540

chr6:
38809572-38809572

C

T

intronic

De novo

-

Trost2022 G

DNAH8

131445

chr6:
38794014-38794014

G

GA

exonic

De novo

frameshift insertion

NM_001206927

c.3931dupA

p.K1310fs

-

Fu2022 E

DNAH8

2-1562-004

chr6:
38974438-38974438

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH8

AU050910

chr6:
38818967-38818967

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH8

CC1243_201

chr6:
38939433-38939433

A

G

exonic

De novo

nonsynonymous SNV

NM_001206927

c.A12517G

p.M4173V

15.55

1.68E-5

Fu2022 E

DNAH8

ASC_3C141

chr6:
38709589-38709589

A

T

exonic

De novo

nonsynonymous SNV

NM_001206927

c.A1219T

p.I407F

21.7

-

Fu2022 E

DNAH8

1-0323-004

chr6:
38731844-38731844

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH8

08C73664

chr6:
38994446-38994446

A

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH8

7-0002-003

chr6:
38873973-38873973

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNAH8

AU026412

chr6:
38826273-38826273

G

A

intronic

De novo

-

Yuen2017 G

DNAH8

Cukier2014:37425

chr6:
38957948-38957948

C

T

exonic

Unknown

nonsynonymous SNV

NM_001206927

c.C13214T

p.T4405M

23.3

4.0E-4

Cukier2014 E

DNAH8

497-05-104034

chr6:
38997976-38997976

G

A

exonic

De novo

synonymous SNV

NM_001206927

c.G13932A

p.T4644T

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DNAH8

iHART2020

chr6:
38941590-38941590

G

A

splicing

Maternal

splicing

23.5

-

Ruzzo2019 G

DNAH8

iHART1876

chr6:
38939412-38939412

C

T

exonic

Maternal

stopgain

NM_001206927

c.C12496T

p.R4166X

53.0

1.0E-4

Ruzzo2019 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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