SLC9A6 Chromosome X
Solute carrier family 9 member A6
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What This Gene Does
This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Gene Info
Gene Group
Solute carrier family 9
Locus Type
gene with protein product
Location
Xq26.3
Ensembl
ENSG00000198689
Associated Conditions (8)
Christianson syndrome
Inborn genetic diseases
Nonpapillary renal cell carcinoma
Intellectual disability
Thyroid cancer
nonmedullary
1
6 conditions
Key Variants
RS1382310975
Conflicting classifications of pathogenicity
Christianson syndrome, Inborn genetic diseases, Christianson syndrome
Health Risk
RS140158476
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
RS2070960570
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
RS2071570215
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
RS372679456
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
RS558960349
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
RS781949645
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome, Christianson syndrome
Health Risk
RS782039050
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
RS782469016
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
RS782731165
Conflicting classifications of pathogenicity
Christianson syndrome, Nonpapillary renal cell carcinoma, Christianson syndrome
Health Risk
RS782759179
Conflicting classifications of pathogenicity
Christianson syndrome, Intellectual disability, Inborn genetic diseases
Health Risk
RS796053284
Conflicting classifications of pathogenicity
Christianson syndrome, Christianson syndrome
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587784398 | Health Risk | Pathogenic | Christianson syndrome, Christianson syndrome |
| RS587784399 | Health Risk | Pathogenic | Christianson syndrome, Christianson syndrome |
| RS730882187 | Health Risk | Pathogenic | Christianson syndrome, Christianson syndrome |
| RS730882188 | Health Risk | Pathogenic | Christianson syndrome, Christianson syndrome |
| RS782108464 | Health Risk | Pathogenic | Christianson syndrome, Christianson syndrome |
| RS796053290 | Health Risk | Pathogenic | Christianson syndrome, Intellectual disability, Inborn genetic diseases |
| RS796053291 | Health Risk | Pathogenic | — |
| RS796053293 | Health Risk | Pathogenic | — |
| RS796053297 | Health Risk | Pathogenic | — |
| RS797044508 | Health Risk | Pathogenic | Christianson syndrome, Thyroid cancer, nonmedullary |
| RS886037619 | Health Risk | Pathogenic | Christianson syndrome, Christianson syndrome |
| RS1064793575 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Christianson syndrome, 6 conditions |
| RS2148156632 | Health Risk | Pathogenic/Likely pathogenic | Christianson syndrome, Christianson syndrome |
| RS2148190013 | Health Risk | Pathogenic/Likely pathogenic | Christianson syndrome, Christianson syndrome |
| RS796053283 | Health Risk | Pathogenic/Likely pathogenic | — |