GUCA1B Chromosome 6
Guanylate cyclase activator 1B
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What This Gene Does
The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000112599
Associated Conditions (3)
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 48
Key Variants
RS117959899
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS121909124
Conflicting classifications of pathogenicity
Retinitis pigmentosa 48, Retinal dystrophy, Retinitis pigmentosa 48
Health Risk
RS142428974
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS200001533
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS200457582
Conflicting classifications of pathogenicity
Health Risk
RS202229506
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS527241870
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS555181489
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS564752140
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS752988497
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS794727264
Conflicting classifications of pathogenicity
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117959899 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS121909124 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 48, Retinal dystrophy, Retinitis pigmentosa 48 |
| RS142428974 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS200001533 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS200457582 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202229506 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS527241870 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS555181489 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS564752140 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS752988497 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS794727264 | Health Risk | Conflicting classifications of pathogenicity | — |