Variant (rsID / SNP)

rs192335177

rs192335177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK. Location: chromosome 12, position 110,011,689. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MVKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:110011689
Cytoband: 12q24.11
HGVS: NM_000431.4(MVK):c.-15+11G>A
Allele change: Silent

Associated conditions / phenotypes

Mevalonic aciduria|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.