Variant (rsID / SNP)

rs140121121

rs140121121 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PLS3. Clinical significance in the table: Benign.

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Reference-table entries

PLS3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq23
HGVS: NM_005032.7(PLS3):c.321T>A (p.Gly107=)
Allele change: Synonymous_G85G

Associated conditions / phenotypes

Osteogenesis imperfecta|Bone mineral density quantitative trait locus 18

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.