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Results for "BRCA2"

Variant Events: 17

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
BRCA2     SSC00085chr13:
32931893-32931893
CTexonicDe novosynonymous SNVNM_000059c.C7632Tp.G2544G-3.313E-5Lim2017 E
BRCA2     AU079104chr13:
32928893-32928893
GAintronicDe novo--Yuen2017 G
BRCA2     PN400108chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400113chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400584chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     2-1436-003chr13:
32949577-32949577
AGintronicDe novo--Yuen2017 G
BRCA2     09C88971chr13:
32915264-32915264
GAexonicDe novononsynonymous SNVNM_000059c.G6772Ap.E2258K0.0118.268E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
BRCA2     09C89530chr13:
32929306-32929306
GAexonicDe novononsynonymous SNVNM_000059c.G7316Ap.G2439E3.923-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
BRCA2     UK10K_SKUSE5080218chr13:
32968952-32968952
GAexonicDe novononsynonymous SNVNM_000059c.G9383Ap.R3128Q15.058.244E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
BRCA2     PN400260chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400507chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400286chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400249chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400554chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400590chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     PN400488chr13:
32972626-32972626
ATexonicUnknownstopgainNM_000059c.A9976Tp.K3326X51.00.007Leblond2019 E
BRCA2     11149.p1chr13:
32931893-32931893
CTexonicDe novosynonymous SNVNM_000059c.C7632Tp.G2544G-3.313E-5Krumm2015 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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