Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.Arg59Trp (p.R59W)
(
ENST00000352210.9,
ENST00000535223.5,
ENST00000367999.9,
ENST00000544598.5,
ENST00000462866.5 )
PPOX p.Arg59Trp (p.R59W) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) AND not provided
- ClinVar Allele ID
- 23735
- ClinVar RefSeq Alternation Syntax
- NM_001365399.1:c.175C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365398.1:c.175C>T
- ClinVar RefSeq Alternation Syntax
- NM_001122764.3:c.175C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350128.2:c.175C>T
- ClinVar RefSeq Alternation Syntax
- NM_000309.5:c.175C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365401.1:c.-196C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350130.2:c.-344C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365400.1:c.-137C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350129.2:c.-253C>T
- ClinVar RefSeq Alternation Syntax
- NM_001350131.2:c.-230C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001232723
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs