Variant #0000659601 (NC_000017.10:(41258551_41267742)_(41343599_41345058)del, BRCA1(NM_007294.3):c.-232_(134+1_135-1){0})

Individual ID 00295773
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) (41258551_41267742)_(41343599_41345058)del
DNA change (hg38) g.(43106534_43115725)_(43191582_43193041)del
Published as c.(-67790_-66331)_(134+1_135-1)del
ISCN -
DB-ID BRCA1_006092
Variant remarks -
Reference -
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 Anikó Bozsik
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Anikó Bozsik
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/. _1_3i c.-232_(134+1_135-1){0} r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296947 DNA MLPA;PCRlr;SEQ;SEQ-NG-I - - BRCA1, BRCA2 1 Anikó Bozsik