chr17:41245968 T>C
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.1580A>G
Proteinp.K527R
Functionmissense
Localizationexon
hg19chr17:41245968 T>C
dbSNPrs774959350
Synonyms
TranscriptcDNAProtein
NM_007297.3c.1439A>Gp.K480R
NM_007300.3c.1580A>Gp.K527R
NM_007298.3c.787+793A>G
NM_007299.3c.787+793A>G
NR_027676.1n.1716A>G
Frequency in gnomAD
GenomeExome
MAX–0.000008994
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.000008994
SAS–0
ClinVar
IDPhenotypeEffect