Variant (rsID / SNP)

rs121918255

rs121918255 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,403,186. Clinical significance in the table: Pathogenic.

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Reference-table entries

MMUTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:49403186
Cytoband: 6p12.3
HGVS: NM_000255.4(MMUT):c.2107G>C (p.Gly703Arg)
Allele change: Missense_G703R

Associated conditions / phenotypes

METHYLMALONIC ACIDURIA, mut(0) TYPE

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.