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chr16:68845646 G>A

Annotations

GeneCDH1
TranscriptNM_004360.4
cDNAc.892G>A
Proteinp.A298T
Functionmissense
Localizationexon
hg19chr16:68845646 G>A

Synonyms

TranscriptcDNAProtein
NM_001317184.1c.892G>Ap.A298T
NM_001317185.1c.-724G>A
NM_001317186.1c.-928G>A

Frequency in gnomAD

GenomeExome
MAX0.00040.0013
AFR00
AMR00.00008934
ASJ00
EAS00
FIN00
NFE0.00040.0005
SAS0.0013

ClinVar

IDPhenotypeEffect
RCV000148457.1Neoplasm of stomachVUS
RCV000034709.1not providedVUS
RCV000115865.5Hereditary cancer-predisposing syndromeLikely benign
RCV000119169.9Hereditary diffuse gastric cancerBenign/Likely benign
RCV000414947.1Colon cancerVUS
RCV000235152.4not specifiedLikely benign

HGMD

IDPhenotypeEffect
CM041745Gastric cancerDM