Variant (rsID / SNP)

rs115802744

rs115802744 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MVK, MMAB. Location: chromosome 12, position 110,009,465. 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: 12:110009465
Cytoband: 12q24.11
HGVS: NM_052845.4(MMAB):c.185C>T (p.Thr62Met)
Allele change: Missense_T62M

Associated conditions / phenotypes

Methylmalonic aciduria, cblB type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria

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.