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Variant (rsID / SNP)

rs104895382

MVK

rs104895382 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,017,726. 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
12:110017726
Cytoband
12q24.11
HGVS
NM_000431.4(MVK):c.346T>C (p.Tyr116His)
Allele change
Missense_Y116H

Associated conditions / phenotypes

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

Public references

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