Variant (rsID / SNP)

rs397514462

rs397514462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOX. Location: chromosome XY, position 601,578. 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:601578
Cytoband: Xp22.33;Yp11.2
HGVS: NM_000451.4(SHOX):c.509C>A (p.Ala170Asp)
Allele change: Missense_A170D

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.