Variant (rsID / SNP)
rs138342076
rs138342076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,019,269. 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
- 12:110019269
- Cytoband
- 12q24.11
- HGVS
- NM_000431.4(MVK):c.441C>T (p.Ala147=)
- Allele change
- Synonymous_A147A
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.