chr17:41245861 G>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.1687C>T
Proteinp.Q563X
Functionstop gain
Localizationexon
hg19chr17:41245861 G>A
dbSNPrs80356898
Synonyms
TranscriptcDNAProtein
NM_007297.3c.1546C>Tp.Q516X
NM_007300.3c.1687C>Tp.Q563X
NM_007298.3c.787+900C>T
NM_007299.3c.787+900C>T
NR_027676.1n.1823C>T
Frequency in gnomAD
GenomeExome
MAX–0.00005396
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00005396
SAS–0
HGMD
IDPhenotypeEffect
CM950144Breast cancerDM