Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 p.His27Arg (p.H27R)
(
ENST00000311124.9,
ENST00000380010.8,
ENST00000567670.5,
ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) AND not provided
- ClinVar Allele ID
- 167450
- ClinVar RefSeq Alternation Syntax
- NM_001352510.2:c.-279A>G
- ClinVar RefSeq Alternation Syntax
- NM_001205206.4:c.80A>G
- ClinVar RefSeq Alternation Syntax
- NM_194255.4:c.80A>G
- ClinVar RefSeq Alternation Syntax
- NM_001352511.3:c.80A>G
- ClinVar RefSeq Alternation Syntax
- NM_001352512.2:c.80A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002055868
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs