Variant (rsID / SNP)

rs2307131

rs2307131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC9A6. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SLC9A6Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq26.3
HGVS: NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)
Allele change: Synonymous_S533S

Associated conditions / phenotypes

Christianson syndrome|History of neurodevelopmental disorder

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.