Variant (rsID / SNP)
rs9593
rs9593 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMAB. Location: chromosome 12, position 109,994,870. Clinical significance in the table: Benign.
Reference-table entries
MMABBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:109994870
- Cytoband
- 12q24.11
- HGVS
- NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
- Allele change
- Missense_M239K
Associated conditions / phenotypes
Methylmalonic aciduria, cblB type|Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.