Annotation Detail
Information
- Associated Genes
- PPOX
- Associated Variants
-
PPOX p.Arg168His (p.R168H)
(
ENST00000367999.9,
ENST00000535223.5,
ENST00000462866.5,
ENST00000544598.5,
ENST00000352210.9 )
PPOX p.Arg168His (p.R168H) ( ENST00000352210.9, ENST00000367999.9, ENST00000462866.5, ENST00000535223.5, ENST00000544598.5 ) - Associated Disease
- variegate porphyria
- Source Database
- ClinVar
- Description
- NM_001122764.3(PPOX):c.503G>A (p.Arg168His) AND Variegate porphyria
- ClinVar Allele ID
- 23736
- ClinVar RefSeq Alternation Syntax
- NM_000309.5:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_001350129.2:c.95G>A
- ClinVar RefSeq Alternation Syntax
- NM_001350130.2:c.17G>A
- ClinVar RefSeq Alternation Syntax
- NM_001122764.3:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365399.1:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_001350128.2:c.404G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365398.1:c.503G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365400.1:c.95G>A
- ClinVar RefSeq Alternation Syntax
- NM_001350131.2:c.17G>A
- ClinVar RefSeq Alternation Syntax
- NM_001365401.1:c.17G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-02-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009234
- ClinVar Disease
- Variegate porphyria
- Observed Origin Sample
- germline
- Pubmed
- 9738863
- Pubmed
- 30476629
- Pubmed
- 11173967
Drugs