Variant Results

or

Results for "DNHD1"

Variant Events: 52

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

DNHD1

SP0031728

chr11:
6587468-6587468

C

T

intronic

De novo

-

Fu2022 E
Zhou2022 GE

DNHD1

AU4306302

chr11:
6524106-6524106

G

T

exonic

synonymous SNV

NM_173589
NM_144666

c.G870T
c.G870T

p.L290L
p.L290L

-

Zhou2022 GE

DNHD1

SP0023559

chr11:
6566578-6566578

G

A

exonic

De novo

nonsynonymous SNV

NM_144666

c.G4409A

p.R1470H

11.52

4.826E-5

Trost2022 G
Zhou2022 GE

DNHD1

13171.p1

chr11:
6592471-6592471

C

T

exonic

Mosaic Pat.

nonsynonymous SNV

NM_144666

c.C13729T

p.P4577S

9.517

0.0022

Dou2017 E

DNHD1

1-0928-003

chr11:
6573746-6573746

C

T

intronic

De novo

-

Trost2022 G

DNHD1

SP0053338

chr11:
6578897-6578897

G

A

exonic

De novo

stopgain

NM_144666

c.G8372A

p.W2791X

46.0

-

Trost2022 G

DNHD1

1-0269-005

chr11:
6573152-6573152

C

CA

intronic

De novo

-

Trost2022 G

DNHD1

2-1277-003

chr11:
6573152-6573152

C

CA

intronic

De novo

-

Trost2022 G

DNHD1

2-1277-003

chr11:
6573146-6573146

T

TG

intronic

De novo

-

Trost2022 G

DNHD1

1-0269-005

chr11:
6573146-6573146

T

TG

intronic

De novo

-

Trost2022 G

DNHD1

2-1109-004

chr11:
6524353-6524353

C

G

intronic

De novo

-

Trost2022 G

DNHD1

SP0039355

chr11:
6519775-6519775

G

A

exonic

De novo

synonymous SNV

NM_173589
NM_144666

c.G330A
c.G330A

p.Q110Q
p.Q110Q

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

DNHD1

2-0270-004

chr11:
6539369-6539369

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DNHD1

SJD_69.3

chr11:
6591687-6591687

C

A

intronic

De novo

-

Trost2022 G

DNHD1

iHART1603

chr11:
6567022-6567023

GC

G

exonic

Maternal

frameshift deletion

NM_144666

c.4854delC

p.S1618fs

-

Ruzzo2019 G

DNHD1

11726.p1

chr11:
6580460-6580460

A

G

exonic

De novo

nonsynonymous SNV

NM_144666

c.A9466G

p.T3156A

7.609

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

DNHD1

2-0286-004

chr11:
6578823-6578823

C

T

exonic

De novo

synonymous SNV

NM_144666

c.C8298T

p.H2766H

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

DNHD1

iHART1602

chr11:
6567022-6567023

GC

G

exonic

Maternal

frameshift deletion

NM_144666

c.4854delC

p.S1618fs

-

Ruzzo2019 G

DNHD1

iHART2006

chr11:
6568740-6568740

C

T

exonic

Paternal

stopgain

NM_144666

c.C6571T

p.R2191X

43.0

4.642E-5

Ruzzo2019 G

DNHD1

iHART1601

chr11:
6567022-6567023

GC

G

exonic

Maternal

frameshift deletion

NM_144666

c.4854delC

p.S1618fs

-

Ruzzo2019 G

DNHD1

MT_160

chr11:
6578188-6578188

C

T

exonic

Maternal

nonsynonymous SNV

NM_144666

c.C7663T

p.R2555W

8.963

3.0E-4

Toma2013 E

DNHD1

iHART2943

chr11:
6560532-6560532

C

T

exonic

Paternal

stopgain

NM_144666

c.C3409T

p.R1137X

43.0

5.058E-5

Ruzzo2019 G

DNHD1

mAGRE1602

chr11:
6567022-6567023

GC

G

exonic

Maternal

frameshift deletion

NM_144666

c.4854delC

p.S1618fs

-

Cirnigliaro2023 G

DNHD1

mAGRE1601

chr11:
6567022-6567023

GC

G

exonic

Maternal

frameshift deletion

NM_144666

c.4854delC

p.S1618fs

-

Cirnigliaro2023 G

DNHD1

mAGRE4342

chr11:
6566472-6566472

C

T

exonic

Paternal

stopgain

NM_144666

c.C4303T

p.Q1435X

42.0

4.66E-5

Cirnigliaro2023 G

DNHD1

mAGRE2943

chr11:
6560532-6560532

C

T

exonic

Paternal

stopgain

NM_144666

c.C3409T

p.R1137X

43.0

5.058E-5

Cirnigliaro2023 G

DNHD1

iHART2055

chr11:
6589074-6589075

CT

C

exonic

Paternal

frameshift deletion

NM_144666

c.12336delT

p.A4112fs

-

3.457E-5

Ruzzo2019 G

DNHD1

mAGRE5722

chr11:
6555193-6555193

C

T

exonic

Maternal

stopgain

NM_144666

c.C2788T

p.R930X

42.0

-

Cirnigliaro2023 G

DNHD1

iHART2120

chr11:
6568802-6568802

T

A

exonic

Maternal

stopgain

NM_144666

c.T6633A

p.C2211X

43.0

4.785E-5

Ruzzo2019 G

DNHD1

mAGRE4464

chr11:
6520001-6520001

C

T

exonic

Paternal

stopgain

NM_173589
NM_144666

c.C556T
c.C556T

p.R186X
p.R186X

13.09

4.12E-5

Cirnigliaro2023 G

DNHD1

09C84348

chr11:
6541116-6541116

C

T

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

DNHD1

AU4089302

chr11:
6589894-6589894

G

C

splicing

Paternal

splicing

14.66

-

Cirnigliaro2023 G

DNHD1

AU4089301

chr11:
6589894-6589894

G

C

splicing

Paternal

splicing

14.66

-

Cirnigliaro2023 G

DNHD1

mAGRE5542

chr11:
6589690-6589690

C

CA

exonic

Paternal

frameshift insertion

NM_144666

c.12546dupA

p.A4182fs

-

2.486E-5

Cirnigliaro2023 G

DNHD1

mAGRE5541

chr11:
6589690-6589690

C

CA

exonic

Paternal

frameshift insertion

NM_144666

c.12546dupA

p.A4182fs

-

2.486E-5

Cirnigliaro2023 G

DNHD1

mAGRE2055

chr11:
6589074-6589075

CT

C

exonic

Paternal

frameshift deletion

NM_144666

c.12336delT

p.A4112fs

-

3.457E-5

Cirnigliaro2023 G

DNHD1

mAGRE2120

chr11:
6568802-6568802

T

A

exonic

Maternal

stopgain

NM_144666

c.T6633A

p.C2211X

43.0

4.785E-5

Cirnigliaro2023 G

DNHD1

mAGRE2006

chr11:
6568740-6568740

C

T

exonic

Paternal

stopgain

NM_144666

c.C6571T

p.R2191X

43.0

4.642E-5

Cirnigliaro2023 G

DNHD1

mAGRE1603

chr11:
6567022-6567023

GC

G

exonic

Maternal

frameshift deletion

NM_144666

c.4854delC

p.S1618fs

-

Cirnigliaro2023 G

DNHD1

AU1448301

chr11:
6567077-6567077

G

A

exonic

De novo

synonymous SNV

NM_144666

c.G4908A

p.A1636A

-

0.008

Yuen2017 G

DNHD1

11726_p1

chr11:
6580460-6580460

A

G

exonic

De novo

nonsynonymous SNV

NM_144666

c.A9466G

p.T3156A

7.609

-

Fu2022 E

DNHD1

5022

chr11:
6592399-6592399

C

G

exonic

De novo

nonsynonymous SNV

NM_144666

c.C13657G

p.R4553G

22.8

7.462E-5

Fu2022 E

DNHD1

AU3787303

chr11:
6596094-6596094

C

A

intergenic

De novo

-

Yuen2017 G

DNHD1

SP0067210

chr11:
6579898-6579898

T

A

exonic

De novo

synonymous SNV

NM_144666

c.T9186A

p.G3062G

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNHD1

SP0141865

chr11:
6588509-6588509

A

G

exonic

De novo

nonsynonymous SNV

NM_144666

c.A11770G

p.T3924A

0.008

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNHD1

SP0145040

chr11:
6554887-6554887

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

DNHD1

SP0147239

chr11:
6587535-6587535

G

A

exonic

De novo

synonymous SNV

NM_144666

c.G11118A

p.L3706L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNHD1

SP0064695

chr11:
6530432-6530432

C

G

exonic

De novo

nonsynonymous SNV

NM_173589
NM_144666

c.C1165G
c.C1165G

p.Q389E
p.Q389E

14.03

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNHD1

SP0048745

chr11:
6569920-6569920

C

A

exonic

De novo

nonsynonymous SNV

NM_144666

c.C7144A

p.Q2382K

14.39

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DNHD1

SP0038723

chr11:
6560049-6560049

G

T

intronic

De novo

-

Fu2022 E
Trost2022 G

DNHD1

SP0085362

chr11:
6559564-6559564

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

DNHD1

SP0139276

chr11:
6569407-6569407

C

G

intronic

De novo

-

Fu2022 E
Trost2022 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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