Variant #0000025107 (NC_000017.10:g.(41267797_41276033)_(41277500_?)del, BRCA1(NM_007294.3):c.-232_(80+1_81-1){0})

Individual ID 00006185
Chromosome 17
Allele Unknown
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 -?_80+?del
ISCN -
DB-ID BRCA1_001184 See all 29 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 Genevieve Michils
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 +/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000006099 DNA SEQ ? - BRCA1, BRCA2 1 Genevieve Michils