Variant (rsID / SNP)

rs117270429

rs117270429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLCS. Location: chromosome 21, position 38,124,803. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HLCSLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:38124803
Cytoband: 21q22.13
HGVS: NM_001352514.2(HLCS):c.*1744G>A
Allele change: Silent

Associated conditions / phenotypes

Holocarboxylase synthetase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.