Variant (rsID / SNP)

rs374347679

rs374347679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAA. Location: chromosome 4, position 146,567,205. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMAAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:146567205
Cytoband: 4q31.21
HGVS: NM_172250.3(MMAA):c.630A>G (p.Pro210=)
Allele change: Synonymous_P210P

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.