Variant (rsID / SNP)
rs28941784
rs28941784 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAB. Location: chromosome 12, position 109,998,873. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MMABPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:109998873
- Cytoband
- 12q24.11
- HGVS
- NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
- Allele change
- Missense_R186W
Associated conditions / phenotypes
Methylmalonic aciduria, cblB type|Methylmalonic acidemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.