Variant (rsID / SNP)
rs147474255
rs147474255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLCS. Location: chromosome 21, position 38,126,554. 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
- 21:38126554
- Cytoband
- 21q22.13
- HGVS
- NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
- Allele change
- Missense_R725Q
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.