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     
+?/. - c.407G>A r.(?) p.(Cys136Tyr) Parent #1 - likely pathogenic (recessive) g.197297888G>A g.197328758G>A - - CRB1_000369 - PubMed: Weisschuh 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease ARRP17 PubMed: Weisschuh 2016 family - - Germany - - 0 - - 1 LOVD
+?/. - c.407G>A r.(?) p.(Cys136Tyr) Parent #1 - likely pathogenic g.197297888G>A g.197328758G>A CRB1, variant 1: c.407G>A/p.C136Y, variant 2 :Duplication exon 8 - CRB1_000369 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 979 PubMed: Weisschuh 2020 Filing key number: 443, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+/. 2 c.407G>A r.(?) p.(Cys136Tyr) Parent #1 - pathogenic g.197297888G>A - c.407G>A - CRB1_000369 - PubMed: Stingl-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease CRB1-09 PubMed: Stingl-2019 - F - - - - 0 - - 1 LOVD
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