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chr2:47612302 C>G

Annotations

GeneEPCAM
TranscriptNM_002354.2
cDNAc.859-3C>G
Protein
Functionsplicing
Localizationsplice site
hg19chr2:47612302 C>G

Frequency in gnomAD

GenomeExome
MAX0.00030.00008059
AFR0.00010
AMR00
ASJ00
EAS00
FIN0.00090.0007
NFE0.00030.00008059
SAS0

ClinVar

IDPhenotypeEffect
RCV000198665.1Lynch syndromeVUS