Full data view for gene CRB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_201253.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.547T>C r.(?) p.(Cys183Arg) Parent #1 - pathogenic (recessive) g.197298028T>C g.197328898T>C - - CRB1_000357 - PubMed: Tiwari 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease Case71161 PubMed: Tiwari 2016 see paper F - Switzerland - - 0 - - 1 LOVD
+?/. 2 c.547T>C r.(?) p.(Cys183Arg) Unknown - likely pathogenic g.197298028T>C - c.547T>C - CRB1_000357 - PubMed: Maggi_2021 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - 0 - - 1 LOVD
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