Log in
HomeVariants

chr17:41243775 TC>T

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.3772delG
Proteinp.E1258fs
Functionframeshift del
Localizationexon
hg19chr17:41243775 TC>T
dbSNP

Synonyms

TranscriptcDNAProtein
NM_007298.3c.788-727delG
NM_007299.3c.788-727delG
NM_007297.3c.3631delGp.E1211fs
NM_007300.3c.3772delGp.E1258fs
NR_027676.1n.3908delG

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS