Variant (rsID / SNP)
rs142524025
rs142524025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLCS. Location: chromosome 21, position 38,309,113. 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
- 21:38309113
- Cytoband
- 21q22.13
- HGVS
- NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
- Allele change
- Missense_T211M
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.