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.

3 entries on 1 page. Showing entries 1 - 3.
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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.482C>T r.(?) p.(Ala161Val) - pathogenic g.197297963C>T g.197328833C>T 617C>T - CRB1_000210 not in 100 controls PubMed: den Hollander 1999 - - Germline - - BceAI-;HaeIII-;NlaIV-;Sau96I- 0 - Frans Cremers
+/. 2 c.482C>T r.(?) p.(Ala161Val) - pathogenic g.197297963C>T g.197328833C>T 617C>T - CRB1_000210 not in 100 controls PubMed: den Hollander 1999 - - Germline - - BceAI-;HaeIII-;NlaIV-;Sau96I- 0 - Frans Cremers
+?/. 2 c.482C>T r.(?) p.(Ala161Val) - likely pathogenic g.197297963C>T - c.482C>T - CRB1_000210 - PubMed: Collin-2011 - - Germline - 0/360 controls - 0 - LOVD
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