Variant (rsID / SNP)
rs72648042
rs72648042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,032,871. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MVKConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110032871
- Cytoband
- 12q24.11
- HGVS
- NM_000431.4(MVK):c.924C>T (p.Leu308=)
- Allele change
- Synonymous_L308L
Associated conditions / phenotypes
Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.