Variant (rsID / SNP)

rs121917789

rs121917789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,032,849. Clinical significance in the table: Pathogenic.

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Reference-table entries

MVKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:110032849
Cytoband: 12q24.11
HGVS: NM_000431.4(MVK):c.902A>C (p.Asn301Thr)
Allele change: Missense_N301T

Associated conditions / phenotypes

Mevalonic aciduria

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.