Annotation Detail
Information
- Associated Genes
- PNP
- Associated Variants
-
PNP p.His20= (p.H20=)
(
ENST00000361505.10,
ENST00000553591.2,
ENST00000697613.1,
ENST00000697614.1 )
PNP p.His20= (p.H20=) ( ENST00000361505.10, ENST00000553591.2, ENST00000697613.1, ENST00000697614.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000270.4(PNP):c.60C>T (p.His20=) AND not specified
- ClinVar Allele ID
- 142432
- ClinVar RefSeq Alternation Syntax
- NM_000270.4:c.60C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000127499
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs