Variant (rsID / SNP)

rs398123003

rs398123003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC9A6. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC9A6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter)
Allele change: Nonsense_E495X

Associated conditions / phenotypes

Christianson syndrome

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.