GJA3 Chromosome 13
Gap junction protein alpha 3
Upload your DNA to see your personal genotypes for variants in GJA3.
What This Gene Does
The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
13q12.11
Ensembl
ENSG00000121743
Associated Conditions (5)
Inborn genetic diseases
Cataract 14 multiple types
GJA3-related disorder
Developmental cataract
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Key Variants
RS1264843070
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cataract 14 multiple types, Inborn genetic diseases
Health Risk
RS145026721
Conflicting classifications of pathogenicity
Cataract 14 multiple types, Inborn genetic diseases, Cataract 14 multiple types
Health Risk
RS1555339539
Conflicting classifications of pathogenicity
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
RS2141138001
Conflicting classifications of pathogenicity
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
RS2500174109
Conflicting classifications of pathogenicity
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
RS746892668
Conflicting classifications of pathogenicity
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
RS747097789
Conflicting classifications of pathogenicity
Cataract 14 multiple types, Inborn genetic diseases, Cataract 14 multiple types
Health Risk
RS770718484
Conflicting classifications of pathogenicity
Cataract 14 multiple types, Inborn genetic diseases, GJA3-related disorder
Health Risk
RS121917823
Likely pathogenic
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
RS121917825
Likely pathogenic
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
RS121917827
Likely pathogenic
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
RS140332366
Likely pathogenic
Cataract 14 multiple types, Cataract 14 multiple types
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1264843070 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cataract 14 multiple types, Inborn genetic diseases |
| RS145026721 | Health Risk | Conflicting classifications of pathogenicity | Cataract 14 multiple types, Inborn genetic diseases, Cataract 14 multiple types |
| RS1555339539 | Health Risk | Conflicting classifications of pathogenicity | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2141138001 | Health Risk | Conflicting classifications of pathogenicity | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500174109 | Health Risk | Conflicting classifications of pathogenicity | Cataract 14 multiple types, Cataract 14 multiple types |
| RS746892668 | Health Risk | Conflicting classifications of pathogenicity | Cataract 14 multiple types, Cataract 14 multiple types |
| RS747097789 | Health Risk | Conflicting classifications of pathogenicity | Cataract 14 multiple types, Inborn genetic diseases, Cataract 14 multiple types |
| RS770718484 | Health Risk | Conflicting classifications of pathogenicity | Cataract 14 multiple types, Inborn genetic diseases, GJA3-related disorder |
| RS121917823 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS121917825 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS121917827 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS140332366 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2141137371 | Health Risk | Likely pathogenic | — |
| RS2141138370 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2141138391 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2141138396 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500167338 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500167535 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500167645 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500169079 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500171522 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500173859 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500174104 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500174168 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500174658 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500174794 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS374701362 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS397514703 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS752926638 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS780442672 | Health Risk | Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS864309687 | Health Risk | Likely pathogenic | Developmental cataract, Cataract 14 multiple types, Developmental cataract |
| RS864309691 | Health Risk | Likely pathogenic | Developmental cataract, Cataract 14 multiple types, Developmental cataract |
| RS1593332981 | Health Risk | Pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500171362 | Health Risk | Pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500173980 | Health Risk | Pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS1114167307 | Health Risk | Pathogenic/Likely pathogenic | Developmental cataract, Congenital cataracts-facial dysmorphism-neuropathy syndrome, Cataract 14 multiple types |
| RS1566515310 | Health Risk | Pathogenic/Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS1566515377 | Health Risk | Pathogenic/Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2141138365 | Health Risk | Pathogenic/Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS2500174567 | Health Risk | Pathogenic/Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS398122937 | Health Risk | Pathogenic/Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |
| RS864309694 | Health Risk | Pathogenic/Likely pathogenic | Developmental cataract, Cataract 14 multiple types, Cataract 14 multiple types |
| RS981126461 | Health Risk | Pathogenic/Likely pathogenic | Cataract 14 multiple types, Cataract 14 multiple types |