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Variant (rsID / SNP)

rs104895332

MVK

rs104895332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,023,907. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MVKPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:110023907
Cytoband
12q24.11
HGVS
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
Allele change
Missense_V203A

Associated conditions / phenotypes

Hyperimmunoglobulin D with periodic fever|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.