chr17:41244839 A>T
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.2709T>A
Proteinp.C903X
Functionstop gain
Localizationexon
hg19chr17:41244839 A>T
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007297.3c.2568T>Ap.C856X
NM_007300.3c.2709T>Ap.C903X
NM_007298.3c.788-1790T>A
NM_007299.3c.788-1790T>A
NR_027676.1n.2845T>A
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect