Variant #0000792902 (NC_000017.10:g.41197664C>T, BRCA1(NM_007294.3):c.*31G>A)

Individual ID 00378559
Chromosome 17
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.41197664C>T
DNA change (hg38) g.43045647C>T
Published as -
ISCN -
DB-ID BRCA1_005426 See all 2 reported entries
Variant remarks -
Reference PubMed: Dong 2021
ClinVar ID -
dbSNP ID rs776323505
Origin Germline
Segregation -
Frequency 3/11386 controls
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 View details
Owner Johan den Dunnen
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     
BRCA1 NM_007294.3 ?/. - c.*31G>A r.(?) p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000379759 DNA SEQ;SEQ-NG saliva - - 1 Johan den Dunnen