Variant (rsID / SNP)
rs104895304
rs104895304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,029,080. Clinical significance in the table: Pathogenic.
Reference-table entries
MVKPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110029080
- Cytoband
- 12q24.11
- HGVS
- NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
- Allele change
- Missense_I268T
Associated conditions / phenotypes
Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|MVK-Related Disorders|Autoinflammatory syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.