Variant (rsID / SNP)

rs763494292

rs763494292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMGCL. Location: chromosome 1, position 24,147,035. 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: 1:24147035
Cytoband: 1p36.11
HGVS: NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
Allele change: Missense_E37K

Associated conditions / phenotypes

Deficiency of hydroxymethylglutaryl-CoA lyase

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.