Transcript #00014695

Transcript name transcript variant 1
Gene name NOS3 (nitric oxide synthase 3 (endothelial cell))
Chromosome 7
Transcript - NCBI ID NM_000603.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000594.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

20 entries on 1 page. Showing entries 1 - 20.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.382C>T likely benign r.(?) p.(Arg128Trp)
./. - c.894T>A - r.(?) p.(Asp298Glu)
./. - c.894T>A - r.(?) p.(Asp298Glu)
./. - c.894T>A - r.(?) p.(Asp298Glu)
./. - c.894T>A - r.(?) p.(Asp298Glu)
./. - c.894T>A - r.(?) p.(Asp298Glu)
-/. - c.1264G>A benign r.(?) p.(Ala422Thr)
?/. - c.1752+1092G>A VUS r.(=) p.(=)
-?/. - c.1983C>T likely benign r.(?) p.(=)
-?/. - c.2025C>T likely benign r.(?) p.(=)
?/. - c.2113-408T>C VUS r.(?) p.(=)
?/. - c.2290C>T VUS r.(?) p.(Arg764Cys)
?/. - c.2685+113C>T VUS r.(?) p.(=)
?/. - c.2756C>G VUS r.(?) p.(Pro919Arg)
-?/. - c.2838C>T likely benign r.(?) p.(=)
?/. - c.2984+228G>T VUS r.(?) p.(=)
-?/. - c.3468C>T likely benign r.(?) p.(=)
-?/. - c.*2514C>G likely benign r.(=) p.(=)
-?/. - c.*3884G>C likely benign r.(=) p.(=)
?/. - c.*10232C>G VUS r.(=) p.(=)
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