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     
+?/. 4 c.866C>T r.(?) p.(Thr289Met) - likely pathogenic g.197316487C>T g.197347357C>T Thr289Met - CRB1_000180 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 1/190 cases CviAII+;FatI+;NlaIII+;BsgI- 0 - Frans Cremers
?/. 4 c.866C>T r.(?) p.(Thr289Met) - VUS g.197316487C>T g.197347357C>T - - CRB1_000180 unknown variant 2nd chromosome PubMed: Simonelli 2007 - - Unknown - - - 0 - Frans Cremers
-?/. 4 c.866C>T r.(?) p.(Thr289Met) - likely benign g.197316487C>T g.197347357C>T Thr289Met - CRB1_000180 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
-?/. 4 c.866C>T r.(?) p.(Thr289Met) - likely benign g.197316487C>T g.197347357C>T - - CRB1_000180 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - CviAII+;FatI+;NlaIII+;BsgI- 0 - Frans Cremers
-?/. 4 c.866C>T r.(?) p.(Thr289Met) - likely benign g.197316487C>T g.197347357C>T - - CRB1_000180 - PubMed: Vallespin 2007 - - Germline - - CviAII+;FatI+;NlaIII+;BsgI- 0 - Frans Cremers
-?/. 4 c.866C>T r.(?) p.(Thr289Met) - likely benign g.197316487C>T g.197347357C>T - - CRB1_000180 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - CviAII+;FatI+;NlaIII+;BsgI- 0 - Frans Cremers
+?/. 4 c.866C>T r.(?) p.(Thr289Met) - likely pathogenic g.197316487C>T g.197347357C>T - - CRB1_000180 unknown variant 2nd chromosome PubMed: Li 2011 - - Germline - - CviAII+;FatI+;NlaIII+;BsgI- 0 - Frans Cremers
-?/. 4 c.866C>T r.(?) p.(Thr289Met) - likely benign g.197316487C>T g.197347357C>T - - CRB1_000180 - PubMed: Vallespin 2007 - - Germline - - CviAII+;FatI+;NlaIII+;BsgI- 0 - Frans Cremers
+?/. - c.866C>T r.(?) p.(Thr289Met) - likely pathogenic g.197316487C>T - - - CRB1_000180 - PubMed: Holtan 2020 - - Germline - 2/899 cases - 0 - Global Variome, with Curator vacancy
-/. 4 c.866C>T r.(?) p.(Thr289Met) - benign g.197316487C>T - 866C>T - CRB1_000180 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - 0 - LOVD
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