Variant #0000751887 (NC_000017.10:g.59934481C>T, BRIP1(NM_032043.2):c.317G>A)

Individual ID 00351024
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.59934481C>T
DNA change (hg38) -
Published as chr17_59934481_C_T
ISCN -
DB-ID BRIP1_000718 See all 2 reported entries
Variant remarks the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/60466 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00012 View details
Owner BRIDGES consortium
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRIP1 NM_032043.2 ?/. - c.317G>A r.(?) p.(Arg106His) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000352254 DNA SEQ-NG - 34-gene panel BRIP1 1 BRIDGES consortium