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HomeVariants

chr17:41219642 TG>T

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.5056delC
Proteinp.H1686fs
Functionframeshift del
Localizationexon
hg19chr17:41219642 TG>T
dbSNP

Synonyms

TranscriptcDNAProtein
NM_007297.3c.4915delCp.H1639fs
NM_007298.3c.1744delCp.H582fs
NM_007299.3c.1744delCp.H582fs
NM_007300.3c.5119delCp.H1707fs
NR_027676.1n.5192delC

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS