All variants in the CRB1 gene

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     

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     

Owner     
+?/. 2 c.481G>A r.(?) p.(Ala161Thr) - likely pathogenic g.197297962G>A g.197328832G>A CRB1 Ex.2 c.481G>A p.(Ala161Thr), IVS2 c.653-1G>T p.(?) - CRB1_000452 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - 0 - LOVD
+?/. - c.481G>A r.(?) p.(Ala161Thr) ACMG likely pathogenic g.197297962G>A g.197328832G>A CRB1:NM_201253 c.G481A, p.A161T - CRB1_000452 heterozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - 0 - LOVD
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