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.

6 entries on 1 page. Showing entries 1 - 6.
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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.506del r.(?) p.(Gly169Valfs*37) - pathogenic g.197297987del g.197328857del G169VfsX37 - CRB1_000212 - PubMed: Glockle 2013 - - Germline - - - 0 - Frans Cremers
+?/. - c.506del r.(?) p.(Gly169Valfs*37) - likely pathogenic g.197297987del g.197328857del CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c.2290C>T/p.R764C - CRB1_000212 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.506del r.(?) p.(Gly169Valfs*37) - likely pathogenic g.197297987del g.197328857del CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c.2290C>T/p.R764C - CRB1_000212 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.506del r.(?) p.(Gly169Valfs*37) - likely pathogenic g.197297987del g.197328857del CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c.2290C>T/p.R764C - CRB1_000212 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.506del r.(?) p.(Gly169Valfs*37) - likely pathogenic g.197297987del g.197328857del CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c. 3086T>A/p.V1029E - CRB1_000212 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - LOVD
+/. 2 c.506del r.(?) p.(Gly169Valfs*37) - pathogenic g.197297987del - c.506del - CRB1_000212 - PubMed: Stingl-2019 - - Germline - - - 0 - LOVD
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