Variant (rsID / SNP)

rs74734392

rs74734392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPER. Location: chromosome 7, position 34,085,921. Clinical significance in the table: Benign.

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Reference-table entries

BMPERBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:34085921
Cytoband: 7p14.3
HGVS: NM_001365308.1(BMPER):c.580G>A (p.Gly194Ser)
Allele change: Missense_G194S

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.