Variant (rsID / SNP)
rs4290270
rs4290270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TPH2. Location: chromosome 12, position 72,416,235. Clinical significance in the table: Benign.
Reference-table entries
TPH2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:72416235
- Cytoband
- 12q21.1
- HGVS
- NM_173353.4(TPH2):c.1125A>T (p.Ala375=)
- Allele change
- Synonymous_A375A
Associated conditions / phenotypes
Tryptophan 5-monooxygenase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.