Variant (rsID / SNP)

rs13129907

rs13129907 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAA. Location: chromosome 4, position 146,578,950. Clinical significance in the table: Likely benign.

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Reference-table entries

MMAALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 4:146578950
Cytoband: 4q31.21
HGVS: NM_172250.3(MMAA):c.*2364A>G
Allele change: Silent

Associated conditions / phenotypes

Methylmalonic aciduria, cblA 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.