Variant #0000049017 (NC_000017.10:g.(41267797_41276033)_(41277500_?)del, BRCA1(NM_007294.3):c.(?_-232)_(80+1_81-1)del)

Individual ID 00025959
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(41267797_41276033)_(41277500_?)del
DNA change (hg38) -
Published as deletion exons 1-2
ISCN -
DB-ID BRCA1_001184 See all 27 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Juul Wijnen
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.(?_-232)_(80+1_81-1)del r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000025961 DNA MLPA;SEQ - - BRCA1, BRCA2 1 Juul Wijnen