Variant (rsID / SNP)
rs145762716
rs145762716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLMN. Location: chromosome 1, position 92,737,184. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GLMNConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:92737184
- Cytoband
- 1p22.1
- HGVS
- NM_053274.3(GLMN):c.761C>G (p.Pro254Arg)
- Allele change
- Silent
Associated conditions / phenotypes
Glomuvenous malformation|Blue rubber bleb nevus
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.