Variant #0000191032 (NC_000017.10:g.41276045dup, BRCA1(NM_007294.3):c.69dup)

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.41276045dup
DNA change (hg38) g.43124028dup
Published as -
ISCN -
DB-ID BRCA1_004566 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner ENIGMA consortium
Database submission license No license selected
Created by ENIGMA consortium
Date created 2016-10-18 12:00:00 +02:00 (CEST)
Date last edited 2020-02-20 16:15:54 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRCA1 NM_007294.3 +/+ 2 c.69dup r.(?) p.(Cys24Valfs*17) -