Variant (rsID / SNP)

rs137852637

rs137852637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMGCS2. Location: chromosome 1, position 120,295,927. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HMGCS2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:120295927
Cytoband: 1p12
HGVS: NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)
Allele change: Nonsense_R424X

Associated conditions / phenotypes

3-hydroxy-3-methylglutaryl-CoA synthase 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.