View all transcript variants in gene CRB1

Information The variants shown are described using the NM_201253.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.430T>G p.(Phe144Val) missense_variant - 2/12 possibly_damaging(0.507) r.(?) tolerated(0.53) subst g.197297911T>G - 4.380 - CRB1_000008 rs62636262 - ; clinvar; ensembl; - - - LOVD
./. c.1576C>T p.(Arg526*) stop_gained - 6/12 - r.(?) - subst g.197390534C>T - 3.950 - CRB1_000001 rs114342808 - ; - - - LOVD
+/+ c.2234C>T p.(Thr745Met) missense_variant - 7/12 probably_damaging(1) r.(?) tolerated(0.06) subst g.197396689C>T - 4.850 - CRB1_000007 rs28939720 - ; clinvar; ensembl; 10508521 - - LOVD
?/? c.2843G>A p.(Cys948Tyr) missense_variant,splice_region_variant - 9/12 probably_damaging(0.987) r.(?) deleterious(0) subst g.197403836G>A - 5.340 - CRB1_000002 rs62645748 - ; 20301475;10508521;11231775 - - LOVD
+/+ c.3299T>C p.(Ile1100Thr) missense_variant - 9/12 probably_damaging(0.942) r.(?) deleterious(0.01) subst g.197404292T>C - 5.700 - CRB1_000003 rs62635659 - ; clinvar; ensembl; 11389483 - - LOVD
+/+ c.3299T>G p.(Ile1100Arg) missense_variant - 9/12 probably_damaging(0.984) r.(?) deleterious(0) subst g.197404292T>G - 5.700 - CRB1_000004 rs62635659 - ; clinvar; ensembl; 11389483 - - LOVD
+/+ c.3307G>A p.(Gly1103Arg) missense_variant - 9/12 probably_damaging(0.916) r.(?) deleterious(0) subst g.197404300G>A - -3.140 - CRB1_000005 rs62636275 - ; clinvar; ensembl; 16543197;19140180;15024725 - - LOVD
+/+ c.3997G>T p.(Glu1333*) stop_gained - 11/12 - r.(?) - subst g.197411414G>T - 5.600 - CRB1_000006 rs137853136 - ; clinvar; ensembl; 11389483 - - LOVD
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