Variant (rsID / SNP)

rs80338714

rs80338714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSL. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ARSLPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.33
HGVS: NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
Allele change: Nonsense_W536X

Associated conditions / phenotypes

X-linked chondrodysplasia punctata 1|See cases

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.