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.135C>G r.(?) p.(Cys45Trp) - likely pathogenic g.197297616C>G g.197328486C>G - - CRB1_000031 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease, not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - 0 - Kornelia Neveling
+?/. 2 c.135C>G r.(?) p.(Cys45Trp) - likely pathogenic g.197297616C>G g.197328486C>G - - CRB1_000031 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - 0 - Kornelia Neveling
+?/. 2 c.135C>G r.(?) p.(Cys45Trp) - likely pathogenic g.197297616C>G g.197328486C>G - - CRB1_000031 unknown variant 2nd chromosome PubMed: Clark 2010 - - Germline - - BsmI+ 0 - Frans Cremers
?/. - c.135C>G r.(?) p.(Cys45Trp) - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):c.135C>G (p.C45W) - CRB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.135C>G r.(?) p.(Cys45Trp) - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):c.135C>G (p.C45W) - CRB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.135C>G r.(?) p.(Cys45Trp) - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):c.135C>G (p.C45W) - CRB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.135C>G r.(?) p.(Cys45Trp) - VUS g.197297616C>G g.197328486C>G - - CRB1_000031 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
+?/. - c.135C>G r.(?) p.(Cys45Trp) ACMG likely pathogenic g.197297616C>G g.197328486C>G CRB1 c.135 C>G, p.(Cys45Trp) - CRB1_000031 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
+?/. - c.135C>G r.(?) p.(Cys45Trp) ACMG likely pathogenic g.197297616C>G g.197328486C>G CRB1 c.135C>G, p.(Cys45Trp) - CRB1_000031 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
-?/. 2 c.135C>G r.(?) p.(Cys45Trp) - likely benign g.197297616C>G - c.135C>G - CRB1_000031 - PubMed: González-del Pozo-2011 - - Germline no - - 0 - LOVD
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