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Results for "BARD1"

Variant Events: 6

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
BARD1     2-1178-003chr2:
215638977-215638977
ACintronicDe novo--Yuen2016 G
Yuen2017 G
BARD1     SP0000759chr2:
215645715-215645715
TAexonicDe novononsynonymous SNVNM_001282543
NM_000465
c.A826T
c.A883T
p.N276Y
p.N295Y
18.53-Feliciano2019 E
Fu2022 E
BARD1     AU3371302chr2:
215665296-215665296
TGintronicDe novo--Yuen2017 G
BARD1     2-0310-004chr2:
215630758-215630758
TCintronicDe novo--Yuen2017 G
BARD1     SP0009388chr2:
215595149-215595149
TGexonicDe novononsynonymous SNVNM_001282549
NM_001282548
NM_001282545
NM_001282543
NM_000465
c.A448C
c.A577C
c.A634C
c.A1930C
c.A1987C
p.N150H
p.N193H
p.N212H
p.N644H
p.N663H
20.0-Fu2022 E
BARD1     1-0041-003chr2:
215594290-215594290
AGintronicDe novo--Yuen2016 G
Yuen2017 G
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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