Variant (rsID / SNP)

rs137852552

rs137852552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOX. Location: chromosome XY, position 601,772. 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:601772
Cytoband: Xp22.33;Yp11.2
HGVS: NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)
Allele change: Nonsense_R195X

Associated conditions / phenotypes

SHOX-related short stature|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.