Variant Results

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Results for "ATP1A4"

Variant Events: 17

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

ATP1A4

7-0102-003

chr1:
160121097-160121097

T

A

upstream

De novo

-

-

Trost2022 G
Yuen2017 G

ATP1A4

SJD_34

chr1:
160143953-160143953

A

T

exonic

Paternal

stopgain

NM_144699

c.A2044T

p.K682X

40.0

-

Toma2013 E

ATP1A4

iHART2237

chr1:
160144538-160144538

G

T

splicing

Maternal

splicing

18.94

Ruzzo2019 G

ATP1A4

iHART2239

chr1:
160144538-160144538

G

T

splicing

Maternal

splicing

18.94

Ruzzo2019 G

ATP1A4

mAGRE2239

chr1:
160144538-160144538

G

T

splicing

Maternal

splicing

18.94

Cirnigliaro2023 G

ATP1A4

13846.p1

chr1:
160125943-160125943

C

T

exonic

De novo

nonsynonymous SNV

NM_144699

c.C520T

p.P174S

22.7

-

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

ATP1A4

Lim2017:70421

chr1:
160125943-160125943

C

T

exonic

De novo

nonsynonymous SNV

NM_144699

c.C520T

p.P174S

22.7

-

Lim2017 E

ATP1A4

mAGRE2237

chr1:
160144538-160144538

G

T

splicing

Maternal

splicing

18.94

Cirnigliaro2023 G

ATP1A4

mAGRE4126

chr1:
160136418-160136418

C

G

exonic

Paternal

stopgain

NM_144699

c.C1148G

p.S383X

44.0

-

Cirnigliaro2023 G

ATP1A4

mAGRE5478

chr1:
160121873-160121873

C

T

exonic

Maternal

stopgain

NM_144699

c.C43T

p.Q15X

37.0

Cirnigliaro2023 G

ATP1A4

mAGRE4064

chr1:
160121873-160121873

C

T

exonic

Paternal

stopgain

NM_144699

c.C43T

p.Q15X

37.0

Cirnigliaro2023 G

ATP1A4

A23

chr1:
160124388-160124388

A

G

intronic

De novo

-

-

Wu2018 G

ATP1A4

74-0180

chr1:
160147313-160147313

G

T

exonic

Inherited

nonsynonymous SNV

NM_001001734
NM_144699

c.G3T
c.G2595T

p.M1I
p.M865I

16.37

-

Patowary2019 E

ATP1A4

SP0204808

chr1:
160121845-160121845

G

T

exonic

De novo

synonymous SNV

NM_144699

c.G15T

p.G5G

-

-

Trost2022 G

ATP1A4

70421

chr1:
160125943-160125943

C

T

exonic

De novo

nonsynonymous SNV

NM_144699

c.C520T

p.P174S

22.7

-

Fu2022 E
Trost2022 G

ATP1A4

CA144A

chr1:
160144436-160144436

G

A

exonic

De novo

nonsynonymous SNV

NM_144699

c.G2210A

p.G737D

24.8

-

Fu2022 E

ATP1A4

MSSNG00466-003

chr1:
160128506-160128506

C

T

intronic

De novo

-

-

Trost2022 G

Source Variant Information

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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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