Variant (rsID / SNP)
rs121434329
rs121434329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAL. Location: chromosome 12, position 96,384,250. Clinical significance in the table: Affects.
Reference-table entries
HALOther
- Clinical significance (as recorded)
- Affects
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:96384250
- Cytoband
- 12q23.1
- HGVS
- NM_002108.4(HAL):c.776C>T (p.Pro259Leu)
- Allele change
- Missense_P259L
Associated conditions / phenotypes
Histidinemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.