Variant (rsID / SNP)
rs2230885
rs2230885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAL. Location: chromosome 12, position 96,367,900. Clinical significance in the table: Benign.
Reference-table entries
HALBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:96367900
- Cytoband
- 12q23.1
- HGVS
- NM_002108.4(HAL):c.*110C>A
- Allele change
- Silent
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.