Variant (rsID / SNP)
rs148541545
rs148541545 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LBR. Location: chromosome 1, position 225,603,006. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
LBRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:225603006
- Cytoband
- 1q42.12
- HGVS
- NM_002296.4(LBR):c.866G>A (p.Gly289Glu)
- Allele change
- Missense_G289E
Associated conditions / phenotypes
Greenberg dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.