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.803_806del r.(?) p.(Ser268Asnfs*33) - likely pathogenic g.197313561_197313564del g.197344431_197344434del CRB1, variant 1: c.803_806del/p.S268Nfs*33, variant 2: c.2234C>T/p.T745M - CRB1_000488 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+/. 3 c.803_806del r.(?) p.(Ser268Asnfs*33) - pathogenic g.197313561_197313564del - c.803_806del - CRB1_000488 - PubMed: Stingl-2019 - - Germline - - - 0 - LOVD
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