Variant (rsID / SNP)
rs2372536
rs2372536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATIC. Location: chromosome 2, position 216,190,020. Clinical significance in the table: Benign.
Reference-table entries
ATICBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- missense_variant
- Chromosome / position
- 2:216190020
- HGVS
- NM_004044.7,c.347C>G,p.Thr116Ser
- Allele change
- Missense_T116S
Associated conditions / phenotypes
Aica-Ribosuria Due to Atic Deficiency|Rheumatoid Arthritis|Arthritis|Juvenile Arthritis|Juvenile Rheumatoid Arthritis|Enthesopathy|Methotrexate Toxicity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.