Variant (rsID / SNP)
rs1065758
rs1065758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLCS. Location: chromosome 21, position 38,308,911. Clinical significance in the table: Benign.
Reference-table entries
HLCSBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:38308911
- Cytoband
- 21q22.13
- HGVS
- NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
- Allele change
- Synonymous_S278S
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.