Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs369131814

MMUT

rs369131814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,409,538. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MMUTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:49409538
Cytoband
6p12.3
HGVS
NM_000255.4(MMUT):c.1808+15T>C
Allele change
Silent

Associated conditions / phenotypes

Methylmalonic aciduria due to 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.