Variant Results

or

Results for "ATP10A"

Variant Events: 47

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

ATP10A

2-0309-004

chr15:
25984802-25984802

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

mAGRE6043

chr15:
25924711-25924712

AG

A

exonic

Paternal

frameshift deletion

NM_024490

c.4276delC

p.L1426fs

-

2.502E-5

Cirnigliaro2023 G

ATP10A

mAGRE6042

chr15:
25924711-25924712

AG

A

exonic

Paternal

frameshift deletion

NM_024490

c.4276delC

p.L1426fs

-

2.502E-5

Cirnigliaro2023 G

ATP10A

12132.p1

chr15:
25924832-25924832

C

T

exonic

De novo

nonsynonymous SNV

NM_024490

c.G4156A

p.E1386K

12.4

-

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

ATP10A

14465.p1

chr15:
25925337-25925337

T

C

exonic

De novo

nonsynonymous SNV

NM_024490

c.A3797G

p.Q1266R

14.84

-

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

ATP10A

11432.p1

chr15:
25966848-25966848

C

T

exonic

De novo

nonsynonymous SNV

NM_024490

c.G1319A

p.R440Q

17.91

8.239E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ATP10A

13757.p1

chr15:
25972284-25972284

T

G

intronic

De novo

-

1.654E-5

Satterstrom2020 E

ATP10A

54666147613-C

chr15:
25925233-25925233

G

A

intronic

De novo

-

4.178E-5

Fu2022 E

ATP10A

A4

chr15:
26110932-26110932

G

T

intergenic

De novo

-

Wu2018 G

ATP10A

D’Gama2015:340

chr15:
26026198-26026198

G

A

exonic

Unknown

nonsynonymous SNV

NM_024490

c.C622T

p.R208W

19.39

6.591E-5

D’Gama2015 T

ATP10A

Lim2017:68671

chr15:
25924832-25924832

C

T

exonic

De novo

nonsynonymous SNV

NM_024490

c.G4156A

p.E1386K

12.4

-

Lim2017 E

ATP10A

AU4429301

chr15:
25946647-25946647

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

SSC11965

chr15:
25925337-25925337

T

C

exonic

De novo

nonsynonymous SNV

NM_024490

c.A3797G

p.Q1266R

14.84

-

Fu2022 E
Lim2017 E
Trost2022 G

ATP10A

AU4273304

chr15:
26055559-26055559

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

F8787-1

chr15:
26026323-26026323

C

T

exonic

De novo

nonsynonymous SNV

NM_024490

c.G497A

p.G166E

25.7

-

Montenegro2019 E

ATP10A

AU4072303

chr15:
25972689-25972689

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

2-1549-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

ATP10A

1-0447-003

chr15:
26126547-26126547

T

C

intergenic

De novo

-

Yuen2017 G

ATP10A

68671

chr15:
25924832-25924832

C

T

exonic

De novo

nonsynonymous SNV

NM_024490

c.G4156A

p.E1386K

12.4

-

Trost2022 G

ATP10A

MT_195.4

chr15:
25933628-25933628

C

G

intronic

De novo

-

Trost2022 G

ATP10A

2-0289-004

chr15:
25957857-25957857

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

AU2320301

chr15:
26010334-26010334

G

T

intronic

De novo

-

Trost2022 G

ATP10A

MSSNG00133-003

chr15:
26021173-26021173

T

C

intronic

De novo

-

Trost2022 G

ATP10A

6265

chr15:
25972284-25972284

T

G

intronic

De novo

-

1.654E-5

Trost2022 G

ATP10A

1-1175-003

chr15:
26005695-26005695

G

A

intronic

De novo

-

Trost2022 G

ATP10A

4-0039-003

chr15:
25956821-25956821

A

C

intronic

De novo

-

Trost2022 G

ATP10A

1-0633-003

chr15:
25963779-25963779

G

T

intronic

De novo

-

Trost2022 G

ATP10A

MT_195.4

chr15:
25933643-25933643

G

T

intronic

De novo

-

Trost2022 G

ATP10A

1-0971-003

chr15:
25979044-25979044

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

MSSNG00120-003

chr15:
25949564-25949564

T

A

intronic

De novo

-

Trost2022 G

ATP10A

REACH000400

chr15:
26060463-26060463

G

A

intronic

De novo

-

Trost2022 G

ATP10A

2-1715-003

chr15:
26060670-26060670

T

TC

intronic

De novo

-

Trost2022 G

ATP10A

PN400317

chr15:
25971191-25971191

G

C

exonic

Unknown

nonsynonymous SNV

NM_024490

c.C886G

p.R296G

32.0

2.0E-4

Leblond2019 E

ATP10A

MSSNG00027-003

chr15:
26043297-26043297

A

G

intronic

De novo

-

Trost2022 G

ATP10A

1-0067-004

chr15:
26088045-26088047

TTA

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

11432_p1

chr15:
25966848-25966848

C

T

exonic

De novo

nonsynonymous SNV

NM_024490

c.G1319A

p.R440Q

17.91

8.239E-6

Fu2022 E

ATP10A

AU2463301

chr15:
26043342-26043342

G

T

intronic

De novo

-

Trost2022 G

ATP10A

10-1104-003

chr15:
26029876-26029876

C

A

intronic

De novo

-

Trost2022 G

ATP10A

L7T2M_01

chr15:
26038048-26038048

G

T

intronic

De novo

-

Trost2022 G

ATP10A

1-1196-003

chr15:
26021575-26021575

A

G

intronic

De novo

-

Trost2022 G

ATP10A

REACH000601

chr15:
26022759-26022759

T

C

intronic

De novo

-

Trost2022 G

ATP10A

1-0555-003

chr15:
26021469-26021469

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP10A

MSSNG00011-004

chr15:
26102706-26102706

T

C

intronic

De novo

-

Trost2022 G

ATP10A

2-0318-004

chr15:
26060675-26060680

TGCATC

AAAAGG

intronic

De novo

-

Trost2022 G

ATP10A

1-0611-003

chr15:
26064580-26064580

G

T

intronic

De novo

-

Trost2022 G

ATP10A

2-0318-004

chr15:
26060671-26060671

T

CTGTTCTCGGAGCTG

intronic

De novo

-

Trost2022 G

ATP10A

2-0286-003

chr15:
26060671-26060677

TAAATGC

CTGTTCTCGG

intronic

De novo

-

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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