Annotation Detail
Information
- Associated Genes
- CDH1
- Associated Variants
-
CDH1 p.Pro260Leu (p.P260L)
(
ENST00000261769.10,
ENST00000422392.6 )
CDH1 p.Pro260Leu (p.P260L) ( ENST00000261769.10, ENST00000422392.6 ) - Associated Disease
- blepharocheilodontic syndrome 1
- Source Database
- ClinVar
- Description
- NM_004360.5(CDH1):c.779C>T (p.Pro260Leu) AND Blepharocheilodontic syndrome 1
- ClinVar Allele ID
- 967132
- ClinVar RefSeq Alternation Syntax
- NM_004360.5:c.779C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317185.2:c.-837C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317184.2:c.779C>T
- ClinVar RefSeq Alternation Syntax
- NM_001317186.2:c.-1041C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001257969
- ClinVar Disease
- Blepharocheilodontic syndrome 1
- Observed Origin Sample
- unknown
Drugs