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Results for "ATP7B"

Variant Events: 15

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     1-0593-003chr13:
52552185-52552185
GCintronicDe novo--Yuen2017 G
ATP7B     AU3451301chr13:
52547106-52547106
TCintronicDe novo--Yuen2017 G
ATP7B     1-0329-004chr13:
52572148-52572148
TCintronicDe novo--Yuen2017 G
ATP7B     1-0261-004chr13:
52576706-52576706
GGACintronicDe novo--Yuen2017 G
ATP7B     1-0402-003chr13:
52562515-52562515
TCintronicDe novo--Yuen2017 G
ATP7B     2-1510-003chr13:
52550684-52550684
GTintronicDe novo--Yuen2017 G
ATP7B     5-0129-003chr13:
52576706-52576706
GGACintronicDe novo--Yuen2017 G
ATP7B     653-04-102262chr13:
52548045-52548045
GAintronicDe novo--Satterstrom2020 E
ATP7B     AU1687303chr13:
52552086-52552086
CTintronicDe novo--Yuen2017 G
ATP7B     80001103644chr13:
52509766-52509766
AGexonicnonsynonymous SNVNM_001005918
NM_000053
NM_001243182
c.T3466C
c.T4087C
c.T3754C
p.S1156P
p.S1363P
p.S1252P
17.45-Doan2019 E
ATP7B     2-1362-003chr13:
52539903-52539903
GAintronicDe novo--Yuen2017 G
ATP7B     80001103644chr13:
52518281-52518281
GTexonicnonsynonymous SNVNM_001005918
NM_000053
NM_001243182
c.C2586A
c.C3207A
c.C2874A
p.H862Q
p.H1069Q
p.H958Q
14.039.0E-4Doan2019 E
ATP7B     AU051504chr13:
52567557-52567557
GAintronicDe novo--Yuen2017 G
ATP7B     AU1687302chr13:
52552086-52552086
CTintronicDe novo--Yuen2017 G
ATP7B     AGG0091chr13:
52523887-52523887
GAexonicDe novononsynonymous SNVNM_000053
NM_001243182
c.C2776T
c.C2443T
p.P926S
p.P815S
23.9-Satterstrom2020 E
Source Variant Information

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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 notesView
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