chr17:41234420 C>A
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.4357+1G>T
Protein
Functionsplicing
Localizationsplice site
hg19chr17:41234420 C>A
dbSNPrs80358027
Synonyms
TranscriptcDNAProtein
NM_007300.3c.4357+1G>T
NM_007298.3c.1048+1G>T
NR_027676.1n.4493+1G>T
NM_007297.3c.4216+1G>T
NM_007299.3c.1048+1G>T
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
HGMD
IDPhenotypeEffect
CS086267Breast and/or ovarian cancerDM