Variant (rsID / SNP)

rs122460151

rs122460151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSL. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ARSLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp22.33
HGVS: NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)
Allele change: Silent

Associated conditions / phenotypes

X-linked chondrodysplasia punctata 1

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.