Annotation Detail

Information
Associated Genes
CDH1
Associated Variants
CDH1 p.Ala617Thr (p.A617T) ( ENST00000422392.6, ENST00000261769.10 )
CDH1 p.Ala617Thr (p.A617T) ( ENST00000261769.10, ENST00000422392.6 )
Associated Disease
endometrial carcinoma
Source Database
ClinVar
Description
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) AND Endometrial carcinoma
ClinVar Allele ID
27271
ClinVar RefSeq Alternation Syntax
NM_001317185.2:c.301G>A
ClinVar RefSeq Alternation Syntax
NM_001317186.2:c.-117G>A
ClinVar RefSeq Alternation Syntax
NM_001317184.2:c.1666G>A
ClinVar RefSeq Alternation Syntax
NM_004360.5:c.1849G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2003-03-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000013018
ClinVar Disease
Endometrial carcinoma
Observed Origin Sample
somatic
Pubmed
8075649
Pubmed
12588804
Drugs