POC1B Chromosome 12
POC1 centriolar protein B
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What This Gene Does
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
12q21.33
Ensembl
ENSG00000139323
Associated Conditions (5)
POC1B-related disorder
Inborn genetic diseases
Cone-rod dystrophy 20
Cone-rod dystrophy
Retinal dystrophy
Key Variants
RS141485649
Conflicting classifications of pathogenicity
POC1B-related disorder, POC1B-related disorder
Health Risk
RS144034808
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1452525918
Conflicting classifications of pathogenicity
Cone-rod dystrophy 20, Cone-rod dystrophy 20
Health Risk
RS201071027
Conflicting classifications of pathogenicity
Cone-rod dystrophy 20, Inborn genetic diseases, Cone-rod dystrophy 20
Health Risk
RS201760623
Conflicting classifications of pathogenicity
Cone-rod dystrophy 20, Inborn genetic diseases, Cone-rod dystrophy 20
Health Risk
RS746318136
Conflicting classifications of pathogenicity
Cone-rod dystrophy 20, Inborn genetic diseases, Cone-rod dystrophy 20
Health Risk
RS756143769
Conflicting classifications of pathogenicity
Cone-rod dystrophy 20, Cone-rod dystrophy 20
Health Risk
RS781147961
Conflicting classifications of pathogenicity
Cone-rod dystrophy 20, Cone-rod dystrophy 20
Health Risk
RS942901561
Conflicting classifications of pathogenicity
Cone-rod dystrophy 20, Cone-rod dystrophy 20
Health Risk
RS1017800347
Likely pathogenic
Health Risk
RS1882929478
Likely pathogenic
Cone-rod dystrophy 20, Cone-rod dystrophy 20
Health Risk
RS2540437866
Likely pathogenic
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141485649 | Health Risk | Conflicting classifications of pathogenicity | POC1B-related disorder, POC1B-related disorder |
| RS144034808 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1452525918 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS201071027 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 20, Inborn genetic diseases, Cone-rod dystrophy 20 |
| RS201760623 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 20, Inborn genetic diseases, Cone-rod dystrophy 20 |
| RS746318136 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 20, Inborn genetic diseases, Cone-rod dystrophy 20 |
| RS756143769 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS781147961 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS942901561 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS1017800347 | Health Risk | Likely pathogenic | — |
| RS1882929478 | Health Risk | Likely pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS2540437866 | Health Risk | Likely pathogenic | — |
| RS2540444867 | Health Risk | Likely pathogenic | — |
| RS754888145 | Health Risk | Likely pathogenic | — |
| RS758725010 | Health Risk | Likely pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS1190722472 | Health Risk | Pathogenic | — |
| RS1219608074 | Health Risk | Pathogenic | — |
| RS1225701102 | Health Risk | Pathogenic | — |
| RS1378426700 | Health Risk | Pathogenic | — |
| RS1440795111 | Health Risk | Pathogenic | — |
| RS1882847374 | Health Risk | Pathogenic | — |
| RS1882924778 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2120651305 | Health Risk | Pathogenic | — |
| RS2120831286 | Health Risk | Pathogenic | — |
| RS2120845441 | Health Risk | Pathogenic | — |
| RS2120850531 | Health Risk | Pathogenic | — |
| RS2120852980 | Health Risk | Pathogenic | — |
| RS2135738057 | Health Risk | Pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS2540364734 | Health Risk | Pathogenic | — |
| RS2540423602 | Health Risk | Pathogenic | — |
| RS2540560824 | Health Risk | Pathogenic | — |
| RS570958164 | Health Risk | Pathogenic | — |
| RS587777693 | Health Risk | Pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS587777694 | Health Risk | Pathogenic | Cone-rod dystrophy 20, Retinal dystrophy, Cone-rod dystrophy 20 |
| RS753599044 | Health Risk | Pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS754544190 | Health Risk | Pathogenic | — |
| RS759972304 | Health Risk | Pathogenic | — |
| RS76216585 | Health Risk | Pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS774472777 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1880707874 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS750116711 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |
| RS769102771 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS909373397 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 20, Cone-rod dystrophy 20 |