Variant (rsID / SNP)

rs17325750

rs17325750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSL. Clinical significance in the table: Benign.

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Reference-table entries

ARSLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp22.33
HGVS: NM_000047.3(ARSL):c.786G>A (p.Thr262=)
Allele change: Synonymous_T217T

Associated conditions / phenotypes

Chondrodysplasia punctata, brachytelephalangic, autosomal

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.