Variant (rsID / SNP)
rs119103228
rs119103228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLCS. Location: chromosome 21, position 38,132,112. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HLCSConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:38132112
- Cytoband
- 21q22.13
- HGVS
- NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
- Allele change
- Missense_D571N
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.