Variant #0000363568 (NC_000017.10:g.41276056del, BRCA1(NM_007294.3):c.61del)

Individual ID 00159644
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.41276056del
DNA change (hg38) g.43124039del
Published as -
ISCN -
DB-ID BRCA1_004570 See all 3 reported entries
Variant remarks -
Reference Journal: Rebbeck 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/. 2 c.61del r.(?) p.(Ile21Serfs*2) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000160509 DNA SEQ - - BRCA1 1 Johan den Dunnen