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chr16:68844220 T>G

Annotations

GeneCDH1
TranscriptNM_004360.4
cDNAc.808T>G
Proteinp.S270A
Functionmissense
Localizationexon
hg19chr16:68844220 T>G

Synonyms

TranscriptcDNAProtein
NM_001317184.1c.808T>Gp.S270A
NM_001317185.1c.-808T>G
NM_001317186.1c.-1012T>G

Frequency in gnomAD

GenomeExome
MAX0.00180.0003
AFR00
AMR00
ASJ00
EAS00
FIN0.00340.0022
NFE0.00180.0003
SAS0

ClinVar

IDPhenotypeEffect
RCV000235151.3not providedVUS
RCV000130793.5Hereditary cancer-predisposing syndromeLikely benign
RCV000144457.8Hereditary diffuse gastric cancerLikely benign

HGMD

IDPhenotypeEffect
CM014330Prostate cancerDM