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Variant (rsID / SNP)

rs201536536

MMUT

rs201536536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,408,010. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MMUTUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
6:49408010
Cytoband
6p12.3
HGVS
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)
Allele change
Missense_M622T

Associated conditions / phenotypes

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Public references

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