Variant #0000659597 (NC_000017.10:g.41273870_41310178del, BRCA1(NM_007294.3):c.-32848_80+2226del)

Individual ID 00295769
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) g.41273870_41310178del
DNA change (hg38) g.43121853_43158161del
Published as -
ISCN -
DB-ID BRCA1_006087
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 No license selected
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_2i c.-32848_80+2226del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296943 DNA MLPA;PCRlr;SEQ;SEQ-NG-I - - BRCA1, BRCA2 1 Anikó Bozsik