Variant (rsID / SNP)

rs80338711

rs80338711 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSL. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARSLPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp22.33
HGVS: NM_000047.3(ARSL):c.410G>T (p.Gly137Val)
Allele change: Missense_G92A

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.