Variant (rsID / SNP)

rs765547005

rs765547005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAB. Location: chromosome 12, position 109,994,930. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MMABUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:109994930
Cytoband: 12q24.11
HGVS: NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
Allele change: Missense_Y219C

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.