chr17:41209148 T>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.5198A>T
Proteinp.D1733V
Functionmissense
Localizationexon
hg19chr17:41209148 T>A
dbSNPrs80357270
Synonyms
TranscriptcDNAProtein
NM_007297.3c.5057A>Tp.D1686V
NM_007298.3c.1886A>Tp.D629V
NM_007299.3c.1886A>Tp.D629V
NM_007300.3c.5261A>Tp.D1754V
NR_027676.1n.5334A>T
Frequency in gnomAD
GenomeExome
MAX0.000066670.000008952
AFR00
AMR00
ASJ00
EAS00
FIN0.00060.0006
NFE0.000066670.000008952
SAS–0
ClinVar
IDPhenotypeEffect