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 )
Source Database
ClinVar
Description
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) AND methotrexate response - Efficacy
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
drug response
Clinical Significance Last Update
2021-03-24
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001788041
Observed Origin Sample
germline
Drugs