Variant Results

or

or

Results for "ATP11A"

Variant Events: 24

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

ATP11A

2-1252-003

chr13:
113609372-113609372

G

A

intergenic

De novo

-

-

Yuen2017 G

ATP11A

AU3716302

chr13:
113539493-113539501

CACAATACA

CACA

UTR3

De novo

-

-

Yuen2017 G

ATP11A

SP0000406

chr13:
113510373-113510373

C

T

exonic

De novo

nonsynonymous SNV

NM_015205
NM_032189

c.C2392T
c.C2392T

p.R798C
p.R798C

30.0

Feliciano2019 E
Fu2022 E

ATP11A

09C85650

chr13:
113530101-113530101

A

G

exonic

De novo

nonsynonymous SNV

NM_015205
NM_032189

c.A3173G
c.A3173G

p.N1058S
p.N1058S

1.82

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

ATP11A

2-0122-003

chr13:
113479875-113479875

C

T

exonic

De novo

nonsynonymous SNV

NM_015205
NM_032189

c.C1004T
c.C1004T

p.S335L
p.S335L

8.93

Yuen2015 G
Yuen2017 G

ATP11A

AU002405

chr13:
113467728-113467728

C

T

intronic

De novo

-

-

Yuen2017 G

ATP11A

21739-34571

chr13:
113536239-113536241

ACT

A

exonic

frameshift deletion

NM_032189

c.3438_3439del

p.H1146fs

-

Callaghan2019 G

ATP11A

2-0197-004

chr13:
113592059-113592059

T

TTG

intergenic

De novo

-

-

Yuen2017 G

ATP11A

1-0445-003

chr13:
113384385-113384385

T

C

intronic

De novo

-

-

Yuen2017 G

ATP11A

2-0304-003

chr13:
113589044-113589044

C

T

intergenic

De novo

-

-

Yuen2017 G

ATP11A

2-0007-004

chr13:
113592063-113592063

C

CGCTAATTGGTTGGT

intergenic

De novo

-

-

Yuen2017 G

ATP11A

7-0106-003

chr13:
113464668-113464668

T

C

intronic

De novo

-

-

Yuen2017 G

ATP11A

1-0330-003

chr13:
113365065-113365065

A

G

intronic

De novo

-

-

Yuen2017 G

ATP11A

AU3725302

chr13:
113366743-113366743

C

A

intronic

De novo

-

-

Yuen2017 G

ATP11A

2-1317-003

chr13:
113586933-113586933

G

A

intergenic

De novo

-

-

Yuen2016 G

ATP11A

SP0047169

chr13:
113479876-113479876

G

T

exonic

De novo

synonymous SNV

NM_015205
NM_032189

c.G1005T
c.G1005T

p.S335S
p.S335S

3.209

-

Fu2022 E

ATP11A

14033.p1

chr13:
113516804-113516804

C

T

exonic

Mosaic

nonsynonymous SNV

NM_015205
NM_032189

c.C2906T
c.C2906T

p.T969M
p.T969M

15.9

Krupp2017 E

ATP11A

1-0303-003

chr13:
113535120-113535120

A

G

intronic

De novo

-

-

Yuen2017 G

ATP11A

AU4392301

chr13:
113441991-113441991

C

G

intronic

De novo

-

-

Yuen2017 G

ATP11A

1-0067-005

chr13:
113480747-113480747

G

A

intronic

De novo

-

-

Yuen2017 G

ATP11A

AU2495302

chr13:
113361823-113361823

A

G

intronic

De novo

-

-

Yuen2017 G

ATP11A

AU045512

chr13:
113567070-113567081

CTGTGTGTGTGT

CTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

ATP11A

13234.p1

chr13:
113474289-113474289

G

T

intronic

De novo

-

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ATP11A

1-0261-003

chr13:
113523385-113523385

G

A

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
	More