Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 p.Lys173Gln (p.K173Q)
(
ENST00000647893.1 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 ) - Associated Disease
- Hypopigmentation-punctate palmoplantar keratoderma syndrome
- Source Database
- ClinVar
- Description
- NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) AND Hypopigmentation-punctate palmoplantar keratoderma syndrome
- ClinVar Allele ID
- 28628
- ClinVar RefSeq Alternation Syntax
- NM_006208.3:c.517A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001659696
- ClinVar Disease
- Hypopigmentation-punctate palmoplantar keratoderma syndrome
- Observed Origin Sample
- germline
Drugs