Variant Results

or

Results for "ATP2B2"

Variant Events: 36

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

ATP2B2

12473.p1

chr3:
10384596-10384596

C

T

exonic

De novo

synonymous SNV

NM_001683
NM_001001331

c.G2622A
c.G2757A

p.T874T
p.T919T

-

Krupp2017 E
Satterstrom2020 E

ATP2B2

SSC04349

chr3:
10384596-10384596

C

T

exonic

De novo

synonymous SNV

NM_001683
NM_001001331

c.G2622A
c.G2757A

p.T874T
p.T919T

-

Fu2022 E

ATP2B2

3-0307-000

chr3:
10380424-10380424

C

T

intronic

De novo

-

Yuen2017 G

ATP2B2

SSC06567

chr3:
10387773-10387773

G

A

exonic

nonsynonymous SNV

NM_001683
NM_001001331

c.C2318T
c.C2453T

p.T773M
p.T818M

29.7

-

Antaki2022 GE

ATP2B2

SP0053792

chr3:
10370596-10370596

C

T

exonic

De novo

nonsynonymous SNV

NM_001683
NM_001001331

c.G3499A
c.G3634A

p.A1167T
p.A1212T

29.3

-

Antaki2022 GE
Fu2022 E

ATP2B2

1-0380-003

chr3:
10530142-10530142

T

C

intronic

De novo

-

Yuen2017 G

ATP2B2

SP0109415

chr3:
10442711-10442711

A

T

exonic

De novo

nonsynonymous SNV

NM_001001331
NM_001683

c.T707A
c.T707A

p.I236N
p.I236N

27.2

-

Antaki2022 GE
Fu2022 E

ATP2B2

SP0042294

chr3:
10400608-10400608

A

C

exonic

De novo

nonsynonymous SNV

NM_001683
NM_001001331

c.T1768G
c.T1903G

p.C590G
p.C635G

17.62

-

Antaki2022 GE
Fu2022 E

ATP2B2

1-0539-003

chr3:
10596093-10596093

C

T

intergenic

De novo

-

Yuen2017 G

ATP2B2

2-0198-005

chr3:
10489508-10489508

T

G

intronic

De novo

-

Yuen2017 G

ATP2B2

DEASD_0149_001

chr3:
10370499-10370499

T

TAAAGCG

exonic

De novo

nonframeshift insertion

NM_001683
NM_001001331

c.3595_3596insCGCTTT
c.3730_3731insCGCTTT

p.X1199delinsSLX
p.X1244delinsSLX

-

Fu2022 E
Satterstrom2020 E

ATP2B2

AU4069301

chr3:
10455265-10455265

C

A

intronic

De novo

-

Yuen2017 G

ATP2B2

1-0484-003

chr3:
10407351-10407351

G

GTT

intronic

De novo

-

Yuen2017 G

ATP2B2

2-1066-004

chr3:
10407486-10407486

A

ATG

intronic

De novo

-

Yuen2017 G

ATP2B2

SP0082834

chr3:
10443952-10443952

A

G

exonic

De novo

nonsynonymous SNV

NM_001001331
NM_001683

c.T478C
c.T478C

p.S160P
p.S160P

27.2

-

Antaki2022 GE
Fu2022 E

ATP2B2

2-0171-003

chr3:
10489261-10489261

A

G

intronic

De novo

-

Yuen2017 G

ATP2B2

2-1155-003

chr3:
10404551-10404565

CATATATATATATAT

CATATATATATAT

intronic

De novo

-

Yuen2017 G

ATP2B2

AU4306302

chr3:
10619641-10619641

C

T

intergenic

De novo

-

Yuen2017 G

ATP2B2

AU3703302

chr3:
10385751-10385751

C

T

intronic

De novo

-

Yuen2017 G

ATP2B2

472-05-104142

chr3:
10400378-10400378

T

C

exonic

De novo

synonymous SNV

NM_001683
NM_001001331

c.A1998G
c.A2133G

p.P666P
p.P711P

-

Fu2022 E
Satterstrom2020 E

ATP2B2

JASD_Fam0161

chr3:
10381972-10381972

C

T

exonic

De novo

stopgain

NM_001683
NM_001001331

c.G3056A
c.G3191A

p.W1019X
p.W1064X

45.0

-

Takata2018 E

ATP2B2

JASD_Fam0257

chr3:
10392130-10392130

G

T

exonic

De novo

stopgain

NM_001683
NM_001001331

c.C2133A
c.C2268A

p.C711X
p.C756X

43.0

-

Takata2018 E

ATP2B2

AU2100302

chr3:
10551865-10551865

T

C

intergenic

De novo

-

Yuen2017 G

ATP2B2

1-0200-004

chr3:
10557704-10557704

G

T

intergenic

De novo

-

Yuen2017 G

ATP2B2

1-0269-003

chr3:
10376740-10376740

G

A

intronic

De novo

-

Yuen2017 G

ATP2B2

More2023:15

chr3:
10392216-10392216

G

A

exonic

Inherited

nonsynonymous SNV

NM_001683
NM_001001331

c.C2047T
c.C2182T

p.R683C
p.R728C

28.0

-

More2023 G

ATP2B2

1-0054-004

chr3:
10429858-10429858

C

T

intronic

De novo

-

Yuen2017 G

ATP2B2

SP0021564

chr3:
10417197-10417200

TGAA

T

exonic

De novo

nonframeshift deletion

NM_001683
NM_001001331

c.1195_1197del
c.1330_1332del

p.399_399del
p.444_444del

-

Fu2022 E

ATP2B2

SP0118518

chr3:
10401666-10401666

T

C

exonic

De novo

nonsynonymous SNV

NM_001683
NM_001001331

c.A1666G
c.A1801G

p.T556A
p.T601A

27.1

-

Fu2022 E

ATP2B2

2-0198-004

chr3:
10489508-10489508

T

G

intronic

De novo

-

Yuen2017 G

ATP2B2

NDAR_INVTT613RN2_wes1

chr3:
10420113-10420113

G

A

intronic

De novo

-

0.0251

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

ATP2B2

12853.p1

chr3:
10387773-10387773

G

A

exonic

De novo

nonsynonymous SNV

NM_001683
NM_001001331

c.C2318T
c.C2453T

p.T773M
p.T818M

29.7

-

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

ATP2B2

2-1416-004

chr3:
10407342-10407342

T

TGTTTGTGTG

intronic

De novo

-

Yuen2017 G

ATP2B2

10001071002700288-C

chr3:
10417161-10417161

C

T

exonic

De novo

nonsynonymous SNV

NM_001683
NM_001001331

c.G1234A
c.G1369A

p.E412K
p.E457K

27.5

-

Fu2022 E

ATP2B2

12853_p1

chr3:
10387773-10387773

G

A

exonic

De novo

nonsynonymous SNV

NM_001683
NM_001001331

c.C2318T
c.C2453T

p.T773M
p.T818M

29.7

-

Fu2022 E

ATP2B2

2-0225-004

chr3:
10373397-10373397

T

TA

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
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