Variant (rsID / SNP)

rs35648932

rs35648932 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAB. Location: chromosome 12, position 109,999,603. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MMABConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:109999603
Cytoband: 12q24.11
HGVS: NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
Allele change: Missense_A135T

Associated conditions / phenotypes

Methylmalonic aciduria, cblB 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.