SNX14 Chromosome 6
Sorting nexin 14
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What This Gene Does
This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Sorting nexins
Locus Type
gene with protein product
Location
6q14.3
Ensembl
ENSG00000135317
Associated Conditions (13)
Autosomal recessive spinocerebellar ataxia 20
SNX14-related disorder
Thyroid cancer
nonmedullary
1
Lung cancer
Ovarian serous cystadenocarcinoma
Nonpapillary renal cell carcinoma
Abnormal brain morphology
Cerebellar ataxia
Global developmental delay
Spinocerebellar atrophy
Neurodevelopmental disorder
Key Variants
RS1064793681
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
Health Risk
RS141213887
Conflicting classifications of pathogenicity
Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
Health Risk
RS145795023
Conflicting classifications of pathogenicity
SNX14-related disorder, SNX14-related disorder
Health Risk
RS146849758
Conflicting classifications of pathogenicity
SNX14-related disorder, SNX14-related disorder
Health Risk
RS41271627
Conflicting classifications of pathogenicity
SNX14-related disorder, Thyroid cancer, nonmedullary
Health Risk
RS529960318
Conflicting classifications of pathogenicity
Health Risk
RS755139303
Conflicting classifications of pathogenicity
Health Risk
RS1008167271
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
Health Risk
RS1358743617
Likely pathogenic
Health Risk
RS1554226470
Likely pathogenic
Abnormal brain morphology, Abnormal brain morphology
Health Risk
RS1562374476
Likely pathogenic
Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20
Health Risk
RS1582697948
Likely pathogenic
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064793681 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS141213887 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS145795023 | Health Risk | Conflicting classifications of pathogenicity | SNX14-related disorder, SNX14-related disorder |
| RS146849758 | Health Risk | Conflicting classifications of pathogenicity | SNX14-related disorder, SNX14-related disorder |
| RS41271627 | Health Risk | Conflicting classifications of pathogenicity | SNX14-related disorder, Thyroid cancer, nonmedullary |
| RS529960318 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755139303 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1008167271 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1358743617 | Health Risk | Likely pathogenic | — |
| RS1554226470 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1562374476 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1582697948 | Health Risk | Likely pathogenic | — |
| RS1784370895 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1786449736 | Health Risk | Likely pathogenic | Cerebellar ataxia, Global developmental delay, Cerebellar ataxia |
| RS200277996 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS2535785321 | Health Risk | Likely pathogenic | — |
| RS2537570239 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS951344311 | Health Risk | Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1057519561 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1311909367 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1329394489 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS201128942 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS2535291703 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS749656742 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS760752847 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS774694340 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS786205229 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Spinocerebellar atrophy, Autosomal recessive spinocerebellar ataxia 20 |
| RS869320748 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS876657385 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS876657387 | Health Risk | Pathogenic | Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1171657935 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, SNX14-related disorder, Autosomal recessive spinocerebellar ataxia 20 |
| RS769742160 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS876657386 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive spinocerebellar ataxia 20, SNX14-related disorder, Autosomal recessive spinocerebellar ataxia 20 |