Variant (rsID / SNP)
rs572289342
rs572289342 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN2B1. Location: chromosome 19, position 12,760,718. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MAN2B1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Duplication
- Chromosome / position
- 19:12760718
- Cytoband
- 19p13.13
- HGVS
- NM_000528.4(MAN2B1):c.2267+8dup
Associated conditions / phenotypes
Deficiency of alpha-mannosidase
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.