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.

2 entries on 1 page. Showing entries 1 - 2.
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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.600A>G r.(?) p.(Thr200=) - benign g.197298081A>G g.197328951A>G CRB1(NM_001257965.1):c.393A>G (p.T131=), CRB1(NM_001257965.2):c.393A>G (p.T131=) - CRB1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.600A>G r.(?) p.(Thr200=) - likely benign g.197298081A>G g.197328951A>G CRB1(NM_001257965.1):c.393A>G (p.T131=), CRB1(NM_001257965.2):c.393A>G (p.T131=) - CRB1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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