Variant (rsID / SNP)

rs137852556

rs137852556 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOX. Location: chromosome XY, position 601,586. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SHOXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: XY:601586
Cytoband: Xp22.33;Yp11.2
HGVS: NM_000451.4(SHOX):c.517C>T (p.Arg173Cys)
Allele change: Missense_R173C

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.