Variant (rsID / SNP)

rs10249320

rs10249320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPER. Location: chromosome 7, position 34,125,622. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

BMPERBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:34125622
Cytoband: 7p14.3
HGVS: NM_001365308.1(BMPER):c.1663C>T (p.Arg555Trp)
Allele change: Missense_R555W

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.