Variant (rsID / SNP)

rs137852553

rs137852553 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOX. Location: chromosome XY, position 601,786. Clinical significance in the table: Pathogenic.

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Reference-table entries

SHOXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: XY:601786
Cytoband: Xp22.33;Yp11.2
HGVS: NM_000451.4(SHOX):c.597C>G (p.Tyr199Ter)
Allele change: Nonsense_Y199X

Associated conditions / phenotypes

Leri-Weill dyschondrosteosis

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.