Variant (rsID / SNP)
rs1396115
rs1396115 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BPNT2. Location: chromosome 8, position 57,874,064. Clinical significance in the table: Benign.
Reference-table entries
BPNT2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 8:57874064
- Cytoband
- 8q12.1
- HGVS
- NM_017813.5(BPNT2):c.*2288G>A
- Allele change
- Silent
Associated conditions / phenotypes
Chondrodysplasia with joint dislocations, gPAPP type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.