Variant Results

or

Results for "ATP8B3"

Variant Events: 25

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

ATP8B3

SP0014959

chr19:
1807172-1807172

C

T

exonic

De novo

nonsynonymous SNV

NM_001178002
NM_138813

c.G451A
c.G610A

p.D151N
p.D204N

17.66

8.358E-6

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

ATP8B3

SP0078295

chr19:
1802078-1802174

CCACCCATCCACCCCTCACCCACCCATCACTCACCCATCCACCCACTCCCCCACTCATCCACCCACCTACCCATCCACCCCTCACCCACCCATCACT

C

intronic

De novo

-

Fu2022 E

ATP8B3

13169.p1

chr19:
1790822-1790822

A

C

exonic

De novo

nonsynonymous SNV

NM_001178002
NM_138813

c.T2201G
c.T2312G

p.V734G
p.V771G

12.21

-

Satterstrom2020 E

ATP8B3

SP0018933

chr19:
1795849-1795849

A

C

intronic

De novo

-

8.569E-6

Fu2022 E

ATP8B3

SP0039814

chr19:
1788990-1788990

C

T

exonic

De novo

nonsynonymous SNV

NM_001178002
NM_138813

c.G2864A
c.G2975A

p.R955Q
p.R992Q

17.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ATP8B3

SP0054387

chr19:
1796214-1796214

C

T

exonic

De novo

nonsynonymous SNV

NM_001178002
NM_138813

c.G1663A
c.G1804A

p.A555T
p.A602T

35.0

8.879E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

ATP8B3

SP0054994

chr19:
1791947-1791947

G

T

intronic

De novo

-

Fu2022 E

ATP8B3

SP0007731

chr19:
1791904-1791904

G

A

intronic

De novo

-

5.494E-5

Fu2022 E

ATP8B3

12473.p1

chr19:
1795849-1795849

A

C

intronic

De novo

-

8.569E-6

Satterstrom2020 E

ATP8B3

184-09-111250

chr19:
1790751-1790751

C

G

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ATP8B3

AU011604

chr19:
1808317-1808317

C

T

exonic

De novo

synonymous SNV

NM_001178002
NM_138813

c.G261A
c.G420A

p.T87T
p.T140T

10.2

8.825E-6

Trost2022 G
Yuen2017 G
Zhou2022 GE

ATP8B3

SP0090972

chr19:
1784943-1784943

C

T

exonic

De novo

nonsynonymous SNV

NM_001178002
NM_138813

c.G3424A
c.G3535A

p.A1142T
p.A1179T

6.188

1.0E-4

Trost2022 G

ATP8B3

iHART1884

chr19:
1790806-1790811

GGCGAA

G

exonic

Paternal

frameshift deletion

NM_001178002
NM_138813

c.2212_2216del
c.2323_2327del

p.F738fs
p.F775fs

-

3.0E-4

Ruzzo2019 G

ATP8B3

iHART1883

chr19:
1790806-1790811

GGCGAA

G

exonic

Paternal

frameshift deletion

NM_001178002
NM_138813

c.2212_2216del
c.2323_2327del

p.F738fs
p.F775fs

-

3.0E-4

Ruzzo2019 G

ATP8B3

152-HSC0079

chr19:
1796779-1796779

G

A

exonic

Inherited

nonsynonymous SNV

NM_001178002
NM_138813

c.C1543T
c.C1684T

p.R515W
p.R562W

16.29

5.18E-5

Patowary2019 E

ATP8B3

mAGRE4721

chr19:
1796148-1796150

CCA

C

exonic

Paternal

frameshift deletion

NM_001178002
NM_138813

c.1727_1728del
c.1868_1869del

p.L576fs
p.L623fs

-

Cirnigliaro2023 G

ATP8B3

mAGRE2463

chr19:
1792135-1792135

C

G

splicing

Paternal

splicing

15.98

4.0E-4

Cirnigliaro2023 G

ATP8B3

mAGRE1884

chr19:
1790806-1790811

GGCGAA

G

exonic

Paternal

frameshift deletion

NM_001178002
NM_138813

c.2212_2216del
c.2323_2327del

p.F738fs
p.F775fs

-

3.0E-4

Cirnigliaro2023 G

ATP8B3

SSC04349

chr19:
1795849-1795849

A

C

intronic

De novo

-

8.569E-6

Trost2022 G

ATP8B3

mAGRE1883

chr19:
1790806-1790811

GGCGAA

G

exonic

Paternal

frameshift deletion

NM_001178002
NM_138813

c.2212_2216del
c.2323_2327del

p.F738fs
p.F775fs

-

3.0E-4

Cirnigliaro2023 G

ATP8B3

iHART2463

chr19:
1792135-1792135

C

G

splicing

Paternal

splicing

15.98

4.0E-4

Ruzzo2019 G

ATP8B3

5-5046-004

chr19:
1803625-1803625

G

A

intronic

De novo

-

Trost2022 G

ATP8B3

MSSNG00109-004

chr19:
1785297-1785297

C

T

splicing

De novo

splicing

14.34

-

Trost2022 G

ATP8B3

5904

chr19:
1790822-1790822

A

C

exonic

De novo

nonsynonymous SNV

NM_001178002
NM_138813

c.T2201G
c.T2312G

p.V734G
p.V771G

12.21

-

Trost2022 G

ATP8B3

SP0046135

chr19:
1796880-1796880

T

G

splicing

De novo

splicing

13.12

-

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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