Variant Results

or

Results for "ATP8B2"

Variant Events: 14

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

ATP8B2

2-1735-003

chr1:
154358390-154358390

A

G

intergenic

De novo

-

Yuen2017 G

ATP8B2

PN400129

chr1:
154321009-154321009

G

A

exonic

Unknown

nonsynonymous SNV

NM_020452

c.G3388A

p.D1130N

26.2

2.0E-4

Leblond2019 E

ATP8B2

PN400205

chr1:
154321009-154321009

G

A

exonic

Unknown

nonsynonymous SNV

NM_020452

c.G3388A

p.D1130N

26.2

2.0E-4

Leblond2019 E

ATP8B2

iHART3094

chr1:
154303923-154303923

C

T

exonic

De novo

nonsynonymous SNV

NM_001005855
NM_020452

c.C307T
c.C406T

p.R103C
p.R136C

24.5

-

Ruzzo2019 G

ATP8B2

6239

chr1:
154321570-154321570

T

G

exonic

De novo

synonymous SNV

NM_020452

c.T3648G

p.G1216G

-

Fu2022 E

ATP8B2

AU050403

chr1:
154297907-154297907

T

G

downstream;upstream

De novo

-

Yuen2017 G

ATP8B2

NDAR_INVEB022VLQ_wes1

chr1:
154307007-154307007

C

T

exonic

De novo

synonymous SNV

NM_001005855
NM_020452

c.C777T
c.C876T

p.S259S
p.S292S

-

8.248E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ATP8B2

UK10K_SKUSE5080168

chr1:
154317610-154317610

A

G

exonic

De novo

nonsynonymous SNV

NM_020452

c.A2549G

p.N850S

26.7

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

ATP8B2

AU015903

chr1:
154371261-154371261

G

A

intergenic

De novo

-

Yuen2017 G

ATP8B2

14220.p1

chr1:
154321590-154321590

G

A

exonic

De novo

nonsynonymous SNV

NM_020452

c.G3668A

p.G1223D

9.902

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

ATP8B2

2-1341-004

chr1:
154354368-154354368

C

T

intergenic

De novo

-

Yuen2017 G

ATP8B2

SSC10461

chr1:
154321590-154321590

G

A

exonic

De novo

nonsynonymous SNV

NM_020452

c.G3668A

p.G1223D

9.902

-

Fu2022 E
Lim2017 E

ATP8B2

PN400203

chr1:
154321009-154321009

G

A

exonic

Unknown

nonsynonymous SNV

NM_020452

c.G3388A

p.D1130N

26.2

2.0E-4

Leblond2019 E

ATP8B2

SP0080756

chr1:
154303954-154303954

G

A

exonic

De novo

nonsynonymous SNV

NM_001005855
NM_020452

c.G338A
c.G437A

p.R113H
p.R146H

23.0

-

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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