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Variant (rsID / SNP)

rs104895311

MVK

rs104895311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,023,863. Clinical significance in the table: Pathogenic.

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Reference-table entries

MVKPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:110023863
Cytoband
12q24.11
HGVS
NM_000431.4(MVK):c.564G>A (p.Trp188Ter)
Allele change
Nonsense_W188X

Associated conditions / phenotypes

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.