Variant #0000002153 (NC_000017.11:g.43106478A>G, NM_007294.3:c.190T>C (BRCA1))

Individual ID 00000406
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.43106478A>G
Published as -
Reference Wei Xiong Wen et al. (2018), dbSNP, ClinVar
DB-ID BRCA1_000092
dbSNP ID rs80357064
Frequency 1/1762
Variant remarks VUS (variants of unknown significance.)
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 2021-02-24 12:01:12 +08:00 (CST)
Date last edited 2021-08-01 11:17:39 +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.190T>C - r.(?) p.(Cys64Arg) missense Pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000419 DNA MLPA;SEQ-NG-I BRCA1 20 Nuur Athirah Binti Mohd Daud