Variant (rsID / SNP)

rs117269384

rs117269384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAB. Location: chromosome 12, position 109,999,300. 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: 12:109999300
Cytoband: 12q24.11
HGVS: NM_052845.4(MMAB):c.444G>A (p.Gly148=)
Allele change: Synonymous_G148G

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.