Variant (rsID / SNP)
rs115364786
rs115364786 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPER. Location: chromosome 7, position 34,125,419. Clinical significance in the table: Uncertain significance.
Reference-table entries
BMPERUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:34125419
- Cytoband
- 7p14.3
- HGVS
- NM_001365308.1(BMPER):c.1460C>T (p.Pro487Leu)
- Allele change
- Missense_P487L
Associated conditions / phenotypes
Diaphanospondylodysostosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.