chr17:41244296 AAGCAT>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.3247_3251del
Proteinp.M1083fs
Functionframeshift del
Localizationexon
hg19chr17:41244296 AAGCAT>A
dbSNP
Synonyms
TranscriptcDNAProtein
NM_007297.3c.3106_3110delp.M1036fs
NM_007300.3c.3247_3251delp.M1083fs
NM_007298.3c.788-1252_788-1248delATGCT
NM_007299.3c.788-1252_788-1248delATGCT
NR_027676.1n.3383_3387delATGCT
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect