Variant Results

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Results for "ATP2A1"

Variant Events: 13

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

ATP2A1

iHART1901

chr16:
28899026-28899026

T

TAC

exonic

Paternal

frameshift insertion

NM_001286075
NM_004320
NM_173201

c.536_537insAC
c.911_912insAC
c.911_912insAC

p.V179fs
p.V304fs
p.V304fs

-

-

Ruzzo2019 G

ATP2A1

111316

chr16:
28900137-28900137

G

A

exonic

nonsynonymous SNV

NM_001286075
NM_004320
NM_173201

c.G583A
c.G958A
c.G958A

p.A195T
p.A320T
p.A320T

26.0

Woodbury-Smith2022 E

ATP2A1

12574.p1

chr16:
28913645-28913645

C

G

exonic

De novo

nonsynonymous SNV

NM_001286075
NM_004320
NM_173201

c.C2087G
c.C2462G
c.C2462G

p.P696R
p.P821R
p.P821R

24.7

Satterstrom2020 E

ATP2A1

11935.p1

chr16:
28895947-28895947

C

T

exonic

De novo

nonsynonymous SNV

NM_001286075
NM_004320
NM_173201

c.C140T
c.C515T
c.C515T

p.T47M
p.T172M
p.T172M

34.0

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

ATP2A1

10C104991

chr16:
28892378-28892378

C

T

intronic

De novo

-

-

Satterstrom2020 E

ATP2A1

14687.p1

chr16:
28900149-28900149

C

A

exonic

De novo

nonsynonymous SNV

NM_001286075
NM_004320
NM_173201

c.C595A
c.C970A
c.C970A

p.R199S
p.R324S
p.R324S

19.29

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

ATP2A1

iHART3225

chr16:
28914458-28914459

AC

A

exonic

Maternal

frameshift deletion

NM_001286075
NM_004320
NM_173201

c.2478delC
c.2853delC
c.2853delC

p.D826fs
p.D951fs
p.D951fs

-

Ruzzo2019 G

ATP2A1

iHART1905

chr16:
28899026-28899026

T

TAC

exonic

Paternal

frameshift insertion

NM_001286075
NM_004320
NM_173201

c.536_537insAC
c.911_912insAC
c.911_912insAC

p.V179fs
p.V304fs
p.V304fs

-

-

Ruzzo2019 G

ATP2A1

SSC12226

chr16:
28900149-28900149

C

A

exonic

De novo

nonsynonymous SNV

NM_001286075
NM_004320
NM_173201

c.C595A
c.C970A
c.C970A

p.R199S
p.R324S
p.R324S

19.29

-

Fu2022 E
Lim2017 E

ATP2A1

11935_p1

chr16:
28895947-28895947

C

T

exonic

De novo

nonsynonymous SNV

NM_001286075
NM_004320
NM_173201

c.C140T
c.C515T
c.C515T

p.T47M
p.T172M
p.T172M

34.0

Fu2022 E

ATP2A1

SSC05828

chr16:
28913645-28913645

C

G

exonic

De novo

nonsynonymous SNV

NM_001286075
NM_004320
NM_173201

c.C2087G
c.C2462G
c.C2462G

p.P696R
p.P821R
p.P821R

24.7

Fu2022 E

ATP2A1

2-1269-003

chr16:
28892378-28892378

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ATP2A1

SP0077905

chr16:
28915739-28915739

G

A

UTR3

De novo

24.3

-

Fu2022 E

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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