chr17:41197774 A>T
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.5513T>A
Proteinp.V1838E
Functionmissense
Localizationexon
hg19chr17:41197774 A>T
dbSNPrs80357107
Synonyms
TranscriptcDNAProtein
NM_007297.3c.5372T>Ap.V1791E
NM_007298.3c.2201T>Ap.V734E
NM_007300.3c.5576T>Ap.V1859E
NM_007299.3c.*27T>A
NR_027676.1n.5649T>A
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect
HGMD
IDPhenotypeEffect
CM086011Breast cancerDM