Variant #0000668417 (NC_000017.10:g.(41267797_41276033)_(41278656_?)del, BRCA1(NM_007294.3):c.(?_-1387-1)_(80+1_81-1)del)

Individual ID 00303753
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(41267797_41276033)_(41278656_?)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID BRCA1_004864 See all 2 reported entries
Variant remarks -
Reference PubMed: Santonocito 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/2351 cases
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 No license selected
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 +/. _1_2i c.(?_-1387-1)_(80+1_81-1)del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304880 DNA SEQ-NG - BRCA1/2 sequencing BRCA1 1 Johan den Dunnen