Variant (rsID / SNP)

rs117988035

rs117988035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPER. Location: chromosome 7, position 34,091,570. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BMPERBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:34091570
Cytoband: 7p14.3
HGVS: NM_001365308.1(BMPER):c.774T>G (p.Ala258=)
Allele change: Synonymous_A258A

Associated conditions / phenotypes

Diaphanospondylodysostosis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.