Variant (rsID / SNP)
rs104895319
rs104895319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,032,875. Clinical significance in the table: Pathogenic.
Reference-table entries
MVKPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110032875
- Cytoband
- 12q24.11
- HGVS
- NM_000431.4(MVK):c.928G>A (p.Val310Met)
- Allele change
- Missense_V310M
Associated conditions / phenotypes
Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Mevalonic aciduria|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.