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     
+?/. 2i c.653-1G>T r.(?) p.(?) Unknown - likely pathogenic g.197313410G>T g.197344280G>T CRB1 Ex.2 c.481G>A p.(Ala161Thr), IVS2 c.653-1G>T p.(?) - CRB1_000454 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - 0 - DNA SEQ-NG-I - - retinal disease RP-1743 PubMed: Martin Merida 2019 - ? - Spain - - 0 - - 1 LOVD
+?/. 2i c.653-1G>T r.(?) p.(?) Unknown - likely pathogenic g.197313410G>T g.197344280G>T CRB1 Ex.2 c.613_619del (p.Ile205Aspfs*13), IVS2 c.653-1G>T p.(?) - CRB1_000454 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - 0 - DNA arraySNP - - retinal disease RP-2853 PubMed: Martin Merida 2019 - ? - Spain - - 0 - - 1 LOVD
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