Variant (rsID / SNP)

rs193922466

rs193922466 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SHOX. Location: chromosome XY, position 595,422. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SHOXLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: XY:595422
Cytoband: Xp22.33;Yp11.2
HGVS: NM_000451.4(SHOX):c.347A>G (p.Lys116Arg)
Allele change: Missense_K116R

Associated conditions / phenotypes

SHOX-related short stature

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.