Variant Results

or

Results for "DNAH1"

Variant Events: 29

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

DNAH1

AU4237302

chr3:
52359271-52359271

C

G

intronic

De novo

-

Yuen2017 G

DNAH1

161826

chr3:
52433683-52433683

C

G

exonic

De novo

synonymous SNV

NM_015512

c.C12564G

p.P4188P

-

Fu2022 E

DNAH1

2-1529-003

chr3:
52374001-52374001

T

C

intronic

De novo

-

Yuen2017 G

DNAH1

AU075803

chr3:
52409746-52409746

A

G

intronic

De novo

-

Yuen2017 G

DNAH1

SP0130684

chr3:
52365138-52365138

T

C

intronic

De novo

-

Fu2022 E

DNAH1

SP0038534

chr3:
52419461-52419461

A

C

exonic

De novo

nonsynonymous SNV

NM_015512

c.A8623C

p.K2875Q

10.69

-

Fu2022 E

DNAH1

SP0067479

chr3:
52426815-52426815

T

TGGGGGGGGGGGGGGGGGGG

intronic

De novo

-

Fu2022 E

DNAH1

1-0104-003

chr3:
52374663-52374663

C

A

intronic

De novo

-

Yuen2017 G

DNAH1

AU2139301

chr3:
52389422-52389422

G

A

intronic

De novo

-

Yuen2017 G

DNAH1

SP0091902

chr3:
52396477-52396477

C

T

exonic

De novo

nonsynonymous SNV

NM_015512

c.C5054T

p.P1685L

33.0

1.704E-5

Fu2022 E

DNAH1

SP0076698

chr3:
52426526-52426526

C

A

exonic

De novo

nonsynonymous SNV

NM_015512

c.C10099A

p.P3367T

26.3

-

Fu2022 E

DNAH1

12610.p1

chr3:
52391980-52391980

G

T

exonic

De novo

synonymous SNV

NM_015512

c.G4047T

p.V1349V

-

Krumm2015 E

DNAH1

2-1306-004

chr3:
52392694-52392694

C

T

exonic

De novo

nonsynonymous SNV

NM_015512

c.C4207T

p.R1403C

13.71

8.403E-6

Yuen2017 G

DNAH1

AU3586303

chr3:
52378078-52378078

A

G

intronic

De novo

-

Yuen2017 G

DNAH1

iHART2234

chr3:
52414065-52414075

TGCCCCTTCCA

T

exonic

Paternal

frameshift deletion

NM_015512

c.7523_7532del

p.C2508fs

-

1.842E-5

Ruzzo2019 G

DNAH1

SP0043178

chr3:
52427483-52427483

C

T

exonic

De novo

synonymous SNV

NM_015512

c.C10608T

p.N3536N

-

5.808E-5

Feliciano2019 E
Fu2022 E

DNAH1

AU4054302

chr3:
52370167-52370167

T

C

intronic

De novo

-

Yuen2017 G

DNAH1

09C89133

chr3:
52356651-52356651

C

T

exonic

De novo

nonsynonymous SNV

NM_015512

c.C193T

p.P65S

3.112

8.319E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

DNAH1

2-1085-003

chr3:
52352669-52352669

C

T

intronic

De novo

-

Yuen2017 G

DNAH1

DEASD_0174_001

chr3:
52409336-52409336

C

T

exonic

De novo

nonsynonymous SNV

NM_015512

c.C7066T

p.R2356W

13.97

9.703E-6

DeRubeis2014 E
Kosmicki2017 E

DNAH1

MT_69

chr3:
52425336-52425336

C

G

exonic

Paternal

nonsynonymous SNV

NM_015512

c.C9883G

p.L3295V

14.3

-

Toma2013 E

DNAH1

09C96264

chr3:
52360716-52360716

A

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

DNAH1

2-1306-003

chr3:
52392694-52392694

C

T

exonic

De novo

nonsynonymous SNV

NM_015512

c.C4207T

p.R1403C

13.71

8.403E-6

Yuen2017 G

DNAH1

003-05-102508

chr3:
52406087-52406087

C

T

exonic

De novo

synonymous SNV

NM_015512

c.C6651T

p.L2217L

-

8.332E-6

Fu2022 E
Satterstrom2020 E

DNAH1

11401.p1

chr3:
52410008-52410008

G

C

exonic

Mosaic Mat.

synonymous SNV

NM_015512

c.G7197C

p.V2399V

-

0.004

Dou2017 E

DNAH1

AU3729303

chr3:
52403612-52403612

C

T

intronic

De novo

-

Yuen2017 G

DNAH1

AU4231301

chr3:
52406055-52406055

G

A

exonic

De novo

nonsynonymous SNV

NM_015512

c.G6619A

p.V2207M

12.43

8.31E-6

Yuen2017 G

DNAH1

2-0307-004

chr3:
52428877-52428877

A

T

intronic

De novo

-

Yuen2017 G

DNAH1

1-0032-003

chr3:
52374644-52374644

C

T

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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