Variant #0000191043 (NC_000017.10:g.41276066_41276094del, BRCA1(NM_007294.3):c.22_50del)

Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41276066_41276094del
DNA change (hg38) g.43124049_43124077del
Published as -
ISCN -
DB-ID BRCA1_004572 See all 2 reported entries
Variant remarks Variant allele predicted to encode truncated non-functional protein
Reference ENIGMA classification criteria
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner ENIGMA consortium
Database submission license No license selected
Created by ENIGMA consortium
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/+ 2 c.22_50del r.(?) p.(Val8Tyrfs*23) -