ZNF513 Chromosome 2
Zinc finger protein 513
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What This Gene Does
The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000163795
Associated Conditions (5)
Retinitis pigmentosa
Retinal dystrophy
ZNF513-related disorder
Optic atrophy
Retinitis pigmentosa 58
Key Variants
RS112828880
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS146066701
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS148351779
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS1683477844
Conflicting classifications of pathogenicity
Health Risk
RS184119144
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS184500376
Conflicting classifications of pathogenicity
Retinitis pigmentosa, ZNF513-related disorder, Retinal dystrophy
Health Risk
RS199520071
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS200255167
Conflicting classifications of pathogenicity
Retinitis pigmentosa 58, Retinitis pigmentosa 58
Health Risk
RS267607182
Conflicting classifications of pathogenicity
Retinitis pigmentosa 58, Retinitis pigmentosa 58
Health Risk
RS35554630
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS367962941
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS368015447
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112828880 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS146066701 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS148351779 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS1683477844 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184119144 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS184500376 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, ZNF513-related disorder, Retinal dystrophy |
| RS199520071 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS200255167 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 58, Retinitis pigmentosa 58 |
| RS267607182 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 58, Retinitis pigmentosa 58 |
| RS35554630 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS367962941 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS368015447 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS369469017 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS374192541 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS551666112 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS554115332 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS566881806 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS61740138 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS61742428 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 58, Retinitis pigmentosa, Retinitis pigmentosa 58 |
| RS61995753 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS758258701 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS767264817 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1683490120 | Health Risk | Likely pathogenic | Retinitis pigmentosa 58, Retinitis pigmentosa 58 |