Full data view for gene CRB1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T c.80G>C - CRB1_000063 - PubMed: Aldahmesh 2009 - - Unknown - - HpyCH4V- 0 - DNA PCR, SEQ - - retinal disease DGU-F12-t1 PubMed: Aldahmesh 2009 2-generation family, 1-affected F yes Saudi Arabia Arab - 0 - - 1 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- 0 - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd F yes Saudi Arabia Arab - 0 - - 3 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- 0 - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - 0 - - 3 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- 0 - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - 0 - - 3 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Paternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 2 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Paternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - DNA PCR, SEQ - - CORD - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 2 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Maternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 2 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Maternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - 0 - DNA PCR, SEQ - - CORD - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 2 Frans Cremers
+?/. - c.80G>T r.(?) p.(Cys27Phe) Unknown - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 13DG0249 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 1 LOVD
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic (recessive) g.197297561G>T - c.80G>T - CRB1_000063 - PubMed: Liu-2020 - - Germline - - - 0 - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - 0 - - 1 LOVD
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