Variant (rsID / SNP)

rs137852638

rs137852638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMGCS2. Location: chromosome 1, position 120,302,538. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HMGCS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:120302538
Cytoband: 1p12
HGVS: NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)
Allele change: Missense_G212R

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.