Variant (rsID / SNP)

rs104895300

rs104895300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,019,328. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MVKLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:110019328
Cytoband: 12q24.11
HGVS: NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
Allele change: Missense_P167L

Associated conditions / phenotypes

Hyperimmunoglobulin D with periodic fever

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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