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.

3 entries on 1 page. Showing entries 1 - 3.
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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.430T>G r.(?) p.(Phe144Val) - likely pathogenic g.197297911T>G g.197328781T>G Phe144Val - CRB1_000217 - PubMed: Lotery 2001 - - Germline - 1/190 cases EarI+;MlyI+;PleI+;TfiI- 0 - Frans Cremers
+?/. 2 c.430T>G r.(?) p.(Phe144Val) - likely pathogenic g.197297911T>G g.197328781T>G Phe144Val - CRB1_000217 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - Frans Cremers
+?/. 2 c.430T>G r.(?) p.(Phe144Val) - likely pathogenic g.197297911T>G g.197328781T>G ZNF408 Ex.5 c.1621C>T p.(Arg541Cys), Ex.5 c.1621C>T p.(Arg541Cys), CRB1: p.(Phe144Val) Ex.2 c.430T>G - CRB1_000217 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - 0 - LOVD
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