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.

14 entries on 1 page. Showing entries 1 - 14.
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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     
+?/. - c.? r.(?) p.? - likely pathogenic (recessive) g.? - 3101T>C / Leu989Thr - NPHS2_000000 - PubMed: Khaliq 2003 - - Germline yes - - 0 - Julia Lopez
-/. - c.? r.(?) p.? - benign g.? - 6147T>C - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - Julia Lopez
-/. - c.? r.(?) p.? - benign g.? - IVS3-35C>T - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - Julia Lopez
-/. - c.? r.(?) p.? - benign g.? - IVS1-12A>T - NPHS2_000000 - PubMed: Hameed 2003; PubMed: Booij 2005 - - Germline - - - 0 - Julia Lopez
-/. - c.? r.(?) p.? - benign g.? - IVS4+34C>T - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - Julia Lopez
-/. - c.? r.(?) p.? - benign g.? - IVS4-54C>A - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - Julia Lopez
+?/. - c.? r.? p.? - likely pathogenic g.? - c.G1613A p.W538X - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - LOVD
+?/. - c.? r.? p.? - likely pathogenic g.? - c.T1364C p.L455P - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - LOVD
+?/. - c.? r.? p.? - likely pathogenic g.? - c.T3106C p.C1036R - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - LOVD
+?/. - c.? r.? p.? - likely pathogenic g.? - c.1922-1G > C NA - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - LOVD
+/. - c.? r.? p.? - pathogenic g.? - 652+2G>T - NPHS2_000000 - PubMed: Wang 2015 - - Germline - - - 0 - LOVD
+?/+? - c.? r.? p.? - likely pathogenic (recessive) g.? - V13361 - NPHS2_000000 - PubMed: Jacobson 2007 - - Germline - - - 0 - Julia Lopez
?/. - c.? r.(?) p.? - VUS g.? - p.CRX-Q105X - NPHS1_000138 Mother healthy heterozygous carrier PubMed: Schorderet-2013 - - Germline - - - 0 - LOVD
-/. 6 c.? r.(?) p.? - benign g.? - 1312C>T - NPHS2_000000 - PubMed: li 2011 - - Germline - 1/87 cases; 0/96 controls - 0 - LOVD
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