Variant (rsID / SNP)

rs119103231

rs119103231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HLCS. Location: chromosome 21, position 38,137,345. Clinical significance in the table: Pathogenic.

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Reference-table entries

HLCSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:38137345
Cytoband: 21q22.13
HGVS: NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
Allele change: Missense_V550M

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.