Variant Results

or

or

Results for "ATP7B"

Variant Events: 23

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

ATP7B

1-0593-003

chr13:
52552185-52552185

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

AU3451301

chr13:
52547106-52547106

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

1-0329-004

chr13:
52572148-52572148

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

1-0261-004

chr13:
52576706-52576706

G

GAC

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

SJD_75.3

chr13:
52518131-52518131

T

C

intronic

De novo

-

-

Trost2022 G

ATP7B

1-0402-003

chr13:
52562515-52562515

T

C

intronic

De novo

-

-

Yuen2017 G

ATP7B

2-1510-003

chr13:
52550684-52550684

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

MSSNG00043-003

chr13:
52524093-52524093

A

G

intronic

De novo

-

-

Trost2022 G

ATP7B

5-0129-003

chr13:
52576706-52576706

G

GAC

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

653-04-102262

chr13:
52548045-52548045

G

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

ATP7B

AU1687303

chr13:
52552086-52552086

C

T

intronic

De novo

-

-

Yuen2017 G

ATP7B

80001103644

chr13:
52509766-52509766

A

G

exonic

nonsynonymous SNV

NM_001005918
NM_000053
NM_001243182

c.T3466C
c.T4087C
c.T3754C

p.S1156P
p.S1363P
p.S1252P

17.45

-

Doan2019 E

ATP7B

2-1362-003

chr13:
52539903-52539903

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

80001103644

chr13:
52518281-52518281

G

T

exonic

nonsynonymous SNV

NM_001005918
NM_000053
NM_001243182

c.C2586A
c.C3207A
c.C2874A

p.H862Q
p.H1069Q
p.H958Q

14.03

Doan2019 E

ATP7B

AU051504

chr13:
52567557-52567557

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

mAGRE4608

chr13:
52536032-52536033

AG

A

exonic

Paternal

frameshift deletion

NM_000053
NM_001243182

c.1886delC
c.1553delC

p.A629fs
p.A518fs

-

Cirnigliaro2023 G

ATP7B

7-0399-003

chr13:
52580163-52580163

C

T

intronic

De novo

-

-

Trost2022 G

ATP7B

AU1687302

chr13:
52552086-52552086

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

ATP7B

AGG0091

chr13:
52523887-52523887

G

A

exonic

De novo

nonsynonymous SNV

NM_000053
NM_001243182

c.C2776T
c.C2443T

p.P926S
p.P815S

23.9

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ATP7B

4-0017-003

chr13:
52569168-52569172

AAAAG

A

intronic

De novo

-

-

Trost2022 G

ATP7B

1-0568-003

chr13:
52575490-52575491

CT

TA

intronic

De novo

-

-

Trost2022 G

ATP7B

AU2463301

chr13:
52529115-52529115

G

A

intronic

De novo

-

-

Trost2022 G

ATP7B

7-0321-003A

chr13:
52562894-52562894

G

A

intronic

De novo

-

-

Trost2022 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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