Variant (rsID / SNP)

rs144133667

rs144133667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LIAS. Location: chromosome 4, position 39,471,647. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LIASUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:39471647
Cytoband: 4p14
HGVS: NM_006859.4(LIAS):c.746G>A (p.Arg249His)
Allele change: Missense_R146H

Associated conditions / phenotypes

Lipoic acid 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.