Variant (rsID / SNP)
rs119103230
rs119103230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLCS. Location: chromosome 21, position 38,132,082. Clinical significance in the table: Pathogenic.
Reference-table entries
HLCSPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:38132082
- Cytoband
- 21q22.13
- HGVS
- NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
- Allele change
- Missense_G581S
Associated conditions / phenotypes
Holocarboxylase synthetase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.