CABP4 Chromosome 11
Calcium binding protein 4
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What This Gene Does
This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000175544
Associated Conditions (11)
Cone-rod synaptic disorder
congenital nonprogressive
Inborn genetic diseases
CABP4-related disorder
Retinal dystrophy
Usher syndrome
Cone-rod dystrophy
Aland island eye disease
Achromatopsia
Disorder of eye
Cone dystrophy
Key Variants
RS1050306159
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder
Health Risk
RS121917828
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder
Health Risk
RS139392451
Conflicting classifications of pathogenicity
Health Risk
RS143040005
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder
Health Risk
RS143344989
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder
Health Risk
RS143494300
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, Inborn genetic diseases
Health Risk
RS143788427
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder
Health Risk
RS145789542
Conflicting classifications of pathogenicity
Health Risk
RS146738494
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146764702
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, CABP4-related disorder
Health Risk
RS147329388
Conflicting classifications of pathogenicity
Cone-rod synaptic disorder, congenital nonprogressive, CABP4-related disorder
Health Risk
RS150929930
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199636248 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder |
| RS775166854 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Cone-rod synaptic disorder, congenital nonprogressive |
| RS777555935 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder |
| RS779788706 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder |
| RS786205249 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod synaptic disorder, congenital nonprogressive, Cone-rod synaptic disorder |