Variant #0000000519 (NC_000017.11:g.43097346del, NC_000017.11(NM_007294.3):c.548-57del (BRCA1))

Individual ID 00000093
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43097346del
Published as -
Reference P Balraj et al. (2002), dbSNP, ClinVar
DB-ID BRCA1_000042
dbSNP ID rs1567804371
Frequency 16/30
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-27 10:12:41 +08:00 (CST)
Date last edited 2021-08-22 15:23:54 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA1 NM_007294.3 +/. - c.548-57del - r.(=) p.(=) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000108 DNA PCR BRCA1 8 Nuur Athirah Binti Mohd Daud