Annotation Detail
Information
- Associated Genes
- SLC11A1
- Associated Variants
-
SLC11A1 p.Asp543Asn (p.D543N)
(
ENST00000233202.11 )
SLC11A1 p.Asp543Asn (p.D543N) ( ENST00000233202.11 ) - Associated Disease
- Buruli ulcer, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn) AND Buruli ulcer, susceptibility to
- ClinVar Allele ID
- 24272
- ClinVar RefSeq Alternation Syntax
- NM_000578.4:c.1627G>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2006-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009814
- ClinVar Disease
- Buruli ulcer, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 16395392
Drugs