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.

10 entries on 1 page. Showing entries 1 - 10.
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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.484G>A r.(?) p.Val162Met) - benign g.197297965G>A g.197328835G>A - - CRB1_000035 predicted benign PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling
+?/. 2 c.484G>A r.(?) p.(Val162Met) - likely pathogenic g.197297965G>A g.197328835G>A c.619G>A - CRB1_000035 dominant variant; not in 150 controls PubMed: Mckay 2005 - - Germline - - CviAII+;FatI+;NlaIII+;BceAI- 0 - Frans Cremers
+?/. 2 c.484G>A r.(?) p.(Val162Met) - likely pathogenic g.197297965G>A g.197328835G>A c.619G>A - CRB1_000035 dominant variant; not in 150 controls PubMed: Mckay 2005 - - Germline - - CviAII+;FatI+;NlaIII+;BceAI- 0 - Frans Cremers
+?/. 2 c.484G>A r.(?) p.(Val162Met) - likely pathogenic g.197297965G>A g.197328835G>A c.619G>A - CRB1_000035 dominant variant; not in 150 controls PubMed: Mckay 2005 - - Germline - - CviAII+;FatI+;NlaIII+;BceAI- 0 - Frans Cremers
+?/. 2 c.484G>A r.(?) p.(Val162Met) - likely pathogenic g.197297965G>A g.197328835G>A c.619G>A - CRB1_000035 dominant variant; not in 150 controls PubMed: Mckay 2005 - - Germline - - CviAII+;FatI+;NlaIII+;BceAI- 0 - Frans Cremers
+?/. 2 c.484G>A r.(?) p.(Val162Met) - likely pathogenic g.197297965G>A g.197328835G>A c.619G>A - CRB1_000035 dominant variant; not in 150 controls PubMed: Mckay 2005 - - Germline - - CviAII+;FatI+;NlaIII+;BceAI- 0 - Frans Cremers
-?/. - c.484G>A r.(?) p.(Val162Met) - likely benign g.197297965G>A g.197328835G>A CRB1(NM_001257965.1):c.277G>A (p.V93M) - CRB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.484G>A r.(?) p.(Val162Met) - VUS g.197297965G>A g.197328835G>A - - CRB1_000035 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137853138 Germline - 3/2795 individuals - 0 - Mohammed Faruq
+?/. 2 c.484G>A r.(?) p.(Val162Met) - likely pathogenic g.197297965G>A - c.484G>A - CRB1_000035 - PubMed: O'Sullivan-2012 - - Unknown - - - 0 - LOVD
-?/. - c.484G>A r.(?) p.(Val162Met) - likely benign g.197297965G>A - CRB1(NM_001257965.1):c.277G>A (p.V93M) - CRB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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