Variant (rsID / SNP)

rs786205431

rs786205431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMGCL, GALE. Location: chromosome 1, position 24,129,016. Clinical significance in the table: Pathogenic.

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Reference-table entries

HMGCLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:24129016
Cytoband: 1p36.11
HGVS: NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)

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.