Variant (rsID / SNP)

rs121964997

rs121964997 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMGCL. Location: chromosome 1, position 24,147,022. Clinical significance in the table: Pathogenic.

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Reference-table entries

HMGCLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:24147022
Cytoband: 1p36.11
HGVS: NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
Allele change: Missense_R41Q

Associated conditions / phenotypes

Deficiency of hydroxymethylglutaryl-CoA lyase|Long chain 3-hydroxyacyl-CoA dehydrogenase 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.