Variant Results

or

Results for "ATP2B4"

Variant Events: 26

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

ATP2B4

SP0234584

chr1:
203696550-203696550

C

G

exonic

De novo

nonsynonymous SNV

NM_001001396
NM_001684

c.C3160G
c.C3160G

p.L1054V
p.L1054V

21.7

-

Trost2022 G

ATP2B4

2-1772-003

chr1:
203675956-203675956

G

C

intronic

De novo

-

Trost2022 G

ATP2B4

MSSNG00154-003A

chr1:
203668845-203668845

G

A

exonic

nonsynonymous SNV

NM_001001396
NM_001684

c.G649A
c.G649A

p.G217S
p.G217S

34.0

-

Zhou2022 GE

ATP2B4

MSSNG00433-003

chr1:
203697402-203697402

G

A

intronic

De novo

-

Trost2022 G

ATP2B4

2-1266-003

chr1:
203596409-203596409

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ATP2B4

09C96031

chr1:
203676309-203676309

G

C

exonic

De novo

synonymous SNV

NM_001001396
NM_001684

c.G1272C
c.G1272C

p.G424G
p.G424G

-

1.653E-5

Fu2022 E

ATP2B4

MSSNG00242-003

chr1:
203634608-203634608

C

T

intronic

De novo

-

Trost2022 G

ATP2B4

5-5132-003

chr1:
203622878-203622878

T

G

intronic

De novo

-

Trost2022 G

ATP2B4

SJD_79.3

chr1:
203675126-203675126

A

G

intronic

De novo

-

Trost2022 G

ATP2B4

AU3680302

chr1:
203662475-203662475

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP2B4

AU2794301

chr1:
203649457-203649457

G

A

intronic

De novo

-

Trost2022 G

ATP2B4

12302.p1

chr1:
203652386-203652386

G

A

exonic

De novo

nonsynonymous SNV

NM_001001396
NM_001684

c.G53A
c.G53A

p.R18H
p.R18H

0.095

5.767E-5

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

ATP2B4

mAGRE2239

chr1:
203668776-203668776

C

T

exonic

Paternal

stopgain

NM_001001396
NM_001684

c.C580T
c.C580T

p.R194X
p.R194X

41.0

8.237E-6

Cirnigliaro2023 G

ATP2B4

mAGRE2237

chr1:
203668776-203668776

C

T

exonic

Paternal

stopgain

NM_001001396
NM_001684

c.C580T
c.C580T

p.R194X
p.R194X

41.0

8.237E-6

Cirnigliaro2023 G

ATP2B4

AU4029302

chr1:
203703363-203703363

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP2B4

131-09-111090

chr1:
203668845-203668845

G

A

exonic

De novo

nonsynonymous SNV

NM_001001396
NM_001684

c.G649A
c.G649A

p.G217S
p.G217S

34.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ATP2B4

SSC04564

chr1:
203652386-203652386

G

A

exonic

De novo

nonsynonymous SNV

NM_001001396
NM_001684

c.G53A
c.G53A

p.R18H
p.R18H

0.095

5.767E-5

Fu2022 E
Lim2017 E
Trost2022 G

ATP2B4

AU3915301

chr1:
203723489-203723489

C

T

intergenic

De novo

-

Yuen2017 G

ATP2B4

AU073006

chr1:
203616103-203616103

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ATP2B4

09C81606

chr1:
203689677-203689677

G

A

exonic

De novo

nonsynonymous SNV

NM_001001396
NM_001684

c.G2407A
c.G2407A

p.G803S
p.G803S

22.4

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ATP2B4

iHART2237

chr1:
203668776-203668776

C

T

exonic

Paternal

stopgain

NM_001001396
NM_001684

c.C580T
c.C580T

p.R194X
p.R194X

41.0

8.237E-6

Ruzzo2019 G

ATP2B4

2-1811-003

chr1:
203603194-203603194

A

T

intronic

De novo

-

Trost2022 G

ATP2B4

iHART2239

chr1:
203668776-203668776

C

T

exonic

Paternal

stopgain

NM_001001396
NM_001684

c.C580T
c.C580T

p.R194X
p.R194X

41.0

8.237E-6

Ruzzo2019 G

ATP2B4

AU112A

chr1:
203668581-203668581

G

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ATP2B4

AU2951303

chr1:
203689677-203689677

G

A

exonic

De novo

nonsynonymous SNV

NM_001001396
NM_001684

c.G2407A
c.G2407A

p.G803S
p.G803S

22.4

-

Yuen2017 G
Zhou2022 GE

ATP2B4

AU2951302

chr1:
203689677-203689677

G

A

exonic

De novo

nonsynonymous SNV

NM_001001396
NM_001684

c.G2407A
c.G2407A

p.G803S
p.G803S

22.4

-

Yuen2017 G
Zhou2022 GE

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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