Variant (rsID / SNP)

rs142637231

rs142637231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMGCS2. Location: chromosome 1, position 120,300,050. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HMGCS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:120300050
Cytoband: 1p12
HGVS: NM_005518.4(HMGCS2):c.862C>T (p.Arg288Ter)
Allele change: Synonymous_R288R

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.