Variant Results

or

Results for "ATP10D"

Variant Events: 22

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

ATP10D

13616.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_020453
NM_020453

c.3001dupG
c.3001dupG

p.T1000fs
p.G1001fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

ATP10D

MSSNG00184-003

chr4:
47577556-47577556

T

G

intronic

De novo

-

Trost2022 G

ATP10D

2-0045-003

chr4:
47496011-47496011

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ATP10D

REACH000564

chr4:
47539945-47539945

T

C

intronic

De novo

-

Trost2022 G

ATP10D

SP0161297

chr4:
47559683-47559683

C

T

exonic

De novo

synonymous SNV

NM_020453

c.C1827T

p.I609I

-

Trost2022 G

ATP10D

1-0346-004

chr4:
47556117-47556117

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10D

AU2729301

chr4:
47515904-47515904

A

G

intronic

De novo

-

Trost2022 G

ATP10D

MSSNG00202-003

chr4:
47532838-47532838

T

G

intronic

De novo

-

Trost2022 G

ATP10D

SP0135020

chr4:
47514535-47514535

C

T

UTR5

De novo

-

Fu2022 E

ATP10D

SP0129967

chr4:
47556917-47556917

C

A

exonic

De novo

nonsynonymous SNV

NM_020453

c.C1810A

p.Q604K

17.96

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ATP10D

SP0069861

chr4:
47571203-47571203

C

T

intronic

De novo

-

Fu2022 E

ATP10D

mAGRE2948

chr4:
47538819-47538819

C

CT

exonic

Paternal

frameshift insertion

NM_020453

c.1260_1261insT

p.C420fs

-

8.434E-6

Cirnigliaro2023 G

ATP10D

SSC08078

chr4:
47571000-47571000

T

TG

exonic

De novo

frameshift insertion

NM_020453

c.3001dupG

p.T1000fs

-

Fu2022 E
Trost2022 G

ATP10D

iHART2962

chr4:
47538723-47538725

CTA

C

exonic

Maternal

frameshift deletion

NM_020453

c.1165_1166del

p.Y389fs

-

3.0E-4

Ruzzo2019 G

ATP10D

iHART2948

chr4:
47538819-47538819

C

CT

exonic

Paternal

frameshift insertion

NM_020453

c.1260_1261insT

p.C420fs

-

8.434E-6

Ruzzo2019 G

ATP10D

5-5111-003

chr4:
47491277-47491277

C

T

intronic

De novo

-

Trost2022 G

ATP10D

1-0568-003

chr4:
47496545-47496546

GC

TT

intronic

De novo

-

Trost2022 G

ATP10D

mAGRE4949

chr4:
47582438-47582438

G

A

exonic

Paternal

stopgain

NM_020453

c.G3591A

p.W1197X

46.0

-

Cirnigliaro2023 G

ATP10D

mAGRE5489

chr4:
47559744-47559744

C

T

exonic

Maternal

stopgain

NM_020453

c.C1888T

p.Q630X

37.0

-

Cirnigliaro2023 G

ATP10D

mAGRE4693

chr4:
47559697-47559697

T

TG

exonic

Maternal

frameshift insertion

NM_020453

c.1842dupG

p.L614fs

-

2.0E-4

Cirnigliaro2023 G

ATP10D

mAGRE6021

chr4:
47538910-47538910

C

T

exonic

Maternal

stopgain

NM_020453

c.C1351T

p.R451X

34.0

1.667E-5

Cirnigliaro2023 G

ATP10D

AU3302302

chr4:
47538910-47538910

C

T

exonic

Maternal

stopgain

NM_020453

c.C1351T

p.R451X

34.0

1.667E-5

Cirnigliaro2023 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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