Variant (rsID / SNP)
rs140397628
rs140397628 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,019,209. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MVKBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110019209
- Cytoband
- 12q24.11
- HGVS
- NM_000431.4(MVK):c.381G>A (p.Pro127=)
- Allele change
- Synonymous_P127P
Associated conditions / phenotypes
Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.