chr17:41244976 G>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.2572C>T
Proteinp.Q858X
Functionstop gain
Localizationexon
hg19chr17:41244976 G>A
dbSNPrs397508983
Synonyms
TranscriptcDNAProtein
NM_007297.3c.2431C>Tp.Q811X
NM_007300.3c.2572C>Tp.Q858X
NM_007298.3c.787+1785C>T
NM_007299.3c.787+1785C>T
NR_027676.1n.2708C>T
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
HGMD
IDPhenotypeEffect
CM044211Breast cancerDM