KCNJ13 Chromosome 2
Potassium inwardly rectifying channel subfamily J member 13
Upload your DNA to see your personal genotypes for variants in KCNJ13.
What This Gene Does
This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
2q37.1
Ensembl
ENSG00000115474
Associated Conditions (4)
Snowflake vitreoretinal degeneration
Leber congenital amaurosis 16
Retinitis pigmentosa
Leber congenital amaurosis
Key Variants
RS144268831
Conflicting classifications of pathogenicity
Health Risk
RS1699065038
Conflicting classifications of pathogenicity
Snowflake vitreoretinal degeneration, Snowflake vitreoretinal degeneration
Health Risk
RS374411396
Conflicting classifications of pathogenicity
Health Risk
RS377736321
Conflicting classifications of pathogenicity
Health Risk
RS539013622
Conflicting classifications of pathogenicity
Leber congenital amaurosis 16, Leber congenital amaurosis 16
Health Risk
RS769501717
Conflicting classifications of pathogenicity
Leber congenital amaurosis 16, Leber congenital amaurosis 16
Health Risk
RS770352640
Conflicting classifications of pathogenicity
Leber congenital amaurosis 16, Leber congenital amaurosis 16
Health Risk
RS886043769
Conflicting classifications of pathogenicity
Health Risk
RS1361858388
Likely pathogenic
Leber congenital amaurosis 16, Retinitis pigmentosa, Leber congenital amaurosis 16
Health Risk
RS1699223440
Likely pathogenic
Leber congenital amaurosis 16, Leber congenital amaurosis 16
Health Risk
RS2469812571
Likely pathogenic
Health Risk
RS143607153
Pathogenic
Leber congenital amaurosis 16, Leber congenital amaurosis 16
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144268831 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1699065038 | Health Risk | Conflicting classifications of pathogenicity | Snowflake vitreoretinal degeneration, Snowflake vitreoretinal degeneration |
| RS374411396 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377736321 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS539013622 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS769501717 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS770352640 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS886043769 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1361858388 | Health Risk | Likely pathogenic | Leber congenital amaurosis 16, Retinitis pigmentosa, Leber congenital amaurosis 16 |
| RS1699223440 | Health Risk | Likely pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS2469812571 | Health Risk | Likely pathogenic | — |
| RS143607153 | Health Risk | Pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS1475176373 | Health Risk | Pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS1699091441 | Health Risk | Pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS387906858 | Health Risk | Pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS786205550 | Health Risk | Pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS869320631 | Health Risk | Pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis 16 |
| RS121918542 | Health Risk | Pathogenic/Likely pathogenic | Snowflake vitreoretinal degeneration, Snowflake vitreoretinal degeneration |
| RS863224884 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 16, Leber congenital amaurosis, Leber congenital amaurosis 16 |