Transcript #00003182

Transcript name transcript variant 1
Gene name CRB1 (crumbs homolog 1 (Drosophila))
Chromosome 1
Transcript - NCBI ID NM_201253.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_957705.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+/+ c.430T>G p.(Phe144Val) missense_variant - 2/12 possibly_damaging(0.507) r.(?) tolerated(0.53)
./. c.1576C>T p.(Arg526*) stop_gained - 6/12 - r.(?) -
./. c.2042G>A p.(Cys681Tyr) - - - - r.(?) -
./. c.2128G>C p.(Glu710Gln) - - - - r.(?) -
+/+ c.2234C>T p.(Thr745Met) missense_variant - 7/12 probably_damaging(1) r.(?) tolerated(0.06)
?/? c.2843G>A p.(Cys948Tyr) missense_variant,splice_region_variant - 9/12 probably_damaging(0.987) r.(?) deleterious(0)
+/+ c.3299T>C p.(Ile1100Thr) missense_variant - 9/12 probably_damaging(0.942) r.(?) deleterious(0.01)
+/+ c.3299T>G p.(Ile1100Arg) missense_variant - 9/12 probably_damaging(0.984) r.(?) deleterious(0)
+/+ c.3307G>A p.(Gly1103Arg) missense_variant - 9/12 probably_damaging(0.916) r.(?) deleterious(0)
+/+ c.3997G>T p.(Glu1333*) stop_gained - 11/12 - r.(?) -
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