Full data view for gene CRB1

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ c.430T>G p.(Phe144Val) missense_variant - 2/12 possibly_damaging(0.507) r.(?) tolerated(0.53) Unknown subst g.197297911T>G - 4.380 - CRB1_000008 rs62636262 - ; clinvar; ensembl; - - - - - - - - - - - - - - - - - - - -
./. c.1576C>T p.(Arg526*) stop_gained - 6/12 - r.(?) - Unknown subst g.197390534C>T - 3.950 - CRB1_000001 rs114342808 - ; - - - - - - - - - - - - - - - - - - - -
./. c.2042G>A p.(Cys681Tyr) - - - - r.(?) - Unknown - g.197391000G>A - - - CRB1_000009 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. c.2128G>C p.(Glu710Gln) - - - - r.(?) - Unknown - g.197391086G>C - - - CRB1_000010 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ c.2234C>T p.(Thr745Met) missense_variant - 7/12 probably_damaging(1) r.(?) tolerated(0.06) Unknown subst g.197396689C>T - 4.850 - CRB1_000007 rs28939720 - ; clinvar; ensembl; 10508521 - - - - - - - - - - - - - - - - - - -
?/? c.2843G>A p.(Cys948Tyr) missense_variant,splice_region_variant - 9/12 probably_damaging(0.987) r.(?) deleterious(0) Unknown subst g.197403836G>A - 5.340 - CRB1_000002 rs62645748 - ; 20301475;10508521;11231775 - - - - - - - - - - - - - - - - - - -
+/+ c.3299T>C p.(Ile1100Thr) missense_variant - 9/12 probably_damaging(0.942) r.(?) deleterious(0.01) Unknown subst g.197404292T>C - 5.700 - CRB1_000003 rs62635659 - ; clinvar; ensembl; 11389483 - - - - - - - - - - - - - - - - - - -
+/+ c.3299T>G p.(Ile1100Arg) missense_variant - 9/12 probably_damaging(0.984) r.(?) deleterious(0) Unknown subst g.197404292T>G - 5.700 - CRB1_000004 rs62635659 - ; clinvar; ensembl; 11389483 - - - - - - - - - - - - - - - - - - -
+/+ c.3307G>A p.(Gly1103Arg) missense_variant - 9/12 probably_damaging(0.916) r.(?) deleterious(0) Unknown subst g.197404300G>A - -3.140 - CRB1_000005 rs62636275 - ; clinvar; ensembl; 16543197;19140180;15024725 - - - - - - - - - - - - - - - - - - -
+/+ c.3997G>T p.(Glu1333*) stop_gained - 11/12 - r.(?) - Unknown subst g.197411414G>T - 5.600 - CRB1_000006 rs137853136 - ; clinvar; ensembl; 11389483 - - - - - - - - - - - - - - - - - - -
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