Variant (rsID / SNP)
rs117991621
rs117991621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HAL. Location: chromosome 12, position 96,379,884. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HALConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:96379884
- Cytoband
- 12q23.1
- HGVS
- NM_002108.4(HAL):c.1106G>A (p.Arg369Gln)
- Allele change
- Missense_R369Q
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.