Variant #0000000613 (NC_000017.11:g.43106487A>G, NM_007294.3:c.181T>C (BRCA1))

Individual ID 00000108
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43106487A>G
Published as -
Reference P S Ng et al. (2016), dbSNP, ClinVar
DB-ID BRCA1_000069
dbSNP ID rs28897672
Frequency 1/5
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 2020-11-01 15:35:14 +08:00 (CST)
Date last edited 2021-08-22 11:07:28 +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 ./. 5 c.181T>C - r.(?) p.(Cys61Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000123 DNA SEQ BRCA1 4 Nuur Athirah Binti Mohd Daud