Variant (rsID / SNP)

rs104893851

rs104893851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAA. Location: chromosome 4, position 146,560,724. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MMAAPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:146560724
Cytoband: 4q31.21
HGVS: NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
Allele change: Nonsense_R145X

Associated conditions / phenotypes

Methylmalonic aciduria, cblA type|Methylmalonic acidemia

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.