Variant (rsID / SNP)

rs146263125

rs146263125 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.1637G>A (p.Arg546Gln)
Allele change: Missense_R516Q

Associated conditions / phenotypes

History of neurodevelopmental disorder|Christianson syndrome|Intellectual disability

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.