Variant (rsID / SNP)
rs370803545
rs370803545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN2B1. Location: chromosome 19, position 12,776,184. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MAN2B1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:12776184
- Cytoband
- 19p13.13
- HGVS
- NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
- Allele change
- Synonymous_R140R
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.