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.

3 entries on 1 page. Showing entries 1 - 3.
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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.112del r.(?) p.(Ser38Leufs*33) Unknown - pathogenic g.197297593del g.197328463del 1 bp del codon 37 - CRB1_000065 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 1/190 cases ApoI- 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? ? (unknown) ? - 0 - - 1 Frans Cremers
+/. 2 c.112del r.(?) p.(Ser38Leufs*33) Unknown - pathogenic g.197297593del g.197328463del Asn37 del1 - CRB1_000065 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 2 Frans Cremers
+/. 2 c.112del r.(?) p.(Ser38Leufs*33) Unknown - pathogenic g.197297593del g.197328463del Asn37 del1 - CRB1_000065 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 2 Frans Cremers
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