{{Rsnum
|rsid=2488601
|Gene=CRB2
|Chromosome=9
|position=123373436
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.02204
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CRB2
}}{{Venter SNP
|rsid=2488601
|allele=G
|frequency=
|uid=1103652181487
|type=homozygous_SNP
|hugo=CRB2
|ensembl gene=ENSG00000148204
|ensembl transcript=ENST00000373631
|sift=TOLERATED
|disease=Defects in CRB2 may be a cause of Leber congenital amaurosis (LCA) (MIM:204000). It must be noted that sequence variations in CRB2 seem not to be a common cause of LCA. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
}}

{{GET Evidence
|gene=CRB2
|aa_change=Thr969Ala
|aa_change_short=T969A
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2488601
|overall_frequency_n=5019
|overall_frequency_d=5166
|overall_frequency=0.971545
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|nblosum100=1
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}