View genomic variant #0000000049

Chromosome 17
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.41258504A>C
Reference -
DB-ID BRCA1_000006
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BRCA1 NM_007294.3 +/+ 4 c.181T>G r.(?) p.(Cys61Gly)