Variant (rsID / SNP)

rs137852554

rs137852554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOX. Location: chromosome XY, position 595,469. 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:595469
Cytoband: Xp22.33;Yp11.2
HGVS: NM_000451.4(SHOX):c.394C>G (p.Leu132Val)
Allele change: Missense_L132V

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.