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     
+?/. - c.276_294delinsTGAACACTGTAC r.(?) p.(Arg92Serfs*54) ACMG likely pathogenic g.197297757_197297775delinsTGAACACTGTAC g.197328627_197328645delinsTGAACACTGTAC CRB1 c.276 294deIinsTGAACACTGTAC; p. Arg92SerfsTer54 - CRB1_000501 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. 2 c.276_294delinsTGAACACTGTAC r.(?) p.(Arg92Serfs*54) - likely pathogenic (recessive) g.197297757_197297775delinsTGAACACTGTAC - c.276_294delinsTGAACACTGTAC - CRB1_000501 - PubMed: Motta-2017 - - Germline - - - 0 - LOVD
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