Annotation Detail
Information
- Associated Genes
- ALAS2
- Associated Variants
-
ALAS2 p.Arg170Cys (p.R170C)
(
ENST00000335854.8,
ENST00000396198.7,
ENST00000650242.1 )
ALAS2 p.Arg170Cys (p.R170C) ( ENST00000335854.8, ENST00000396198.7, ENST00000650242.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys) AND not provided
- ClinVar Allele ID
- 1204116
- ClinVar RefSeq Alternation Syntax
- NM_000032.5:c.508C>T
- ClinVar RefSeq Alternation Syntax
- NM_001037967.4:c.397C>T
- ClinVar RefSeq Alternation Syntax
- NM_001037968.4:c.469C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-12-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001581864
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs