Transcript #00006584

Transcript name deoxyribonuclease I
Gene name DNASE1 (deoxyribonuclease I)
Chromosome 16
Transcript - NCBI ID NM_005223.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005214.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

34 entries on 1 page. Showing entries 1 - 34.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-46546T>C likely benign r.(?) p.(=)
-?/. - c.-46420A>G likely benign r.(?) p.(=)
-?/. - c.-46416G>A likely benign r.(?) p.(=)
-?/. - c.-46416G>A likely benign r.(?) p.(=)
-?/. - c.-46380G>T likely benign r.(?) p.(=)
-?/. - c.-46171G>A likely benign r.(?) p.(=)
-?/. - c.6G>T likely benign r.(?) p.(Arg2Ser)
-?/. - c.105G>C likely benign r.(?) p.(Glu35Asp)
-?/. - c.117C>T likely benign r.(?) p.(=)
?/. - c.157C>T VUS r.(?) p.(Arg53Cys)
?/. - c.319A>G VUS r.(?) p.(Arg107Gly)
-?/. - c.319A>G likely benign r.(?) p.(Arg107Gly)
?/. - c.343G>C VUS r.(?) p.(Asp115His)
?/. - c.369C>T VUS r.(?) p.(=)
-?/. - c.379G>A likely benign r.(?) p.(Gly127Arg)
?/. - c.379G>A VUS r.(?) p.(Gly127Arg)
-?/. - c.384C>T likely benign r.(?) p.(=)
?/. - c.397C>G VUS r.(?) p.(Arg133Gly)
?/. - c.397C>T VUS r.(?) p.(Arg133*)
?/. - c.493G>C VUS r.(?) p.(Glu165Gln)
-?/. - c.503C>T likely benign r.(?) p.(Ala168Val)
?/. - c.503C>T VUS r.(?) p.(Ala168Val)
?/. - c.505C>T VUS r.(?) p.(Leu169Phe)
-?/. - c.549+16G>A likely benign r.(=) p.(=)
-?/. - c.567C>T likely benign r.(?) p.(=)
-?/. - c.567C>T likely benign r.(?) p.(=)
-?/. - c.598C>A likely benign r.(?) p.(Pro200Thr)
?/. - c.619C>T VUS r.(?) p.(Arg207Cys)
+?/. - c.704+1G>C likely pathogenic r.spl? p.?
-?/. - c.780C>A likely benign r.(?) p.(=)
?/. - c.*4052G>A VUS r.(=) p.(=)
?/. - c.*4124G>A VUS r.(=) p.(=)
-?/. - c.*8071A>T likely benign r.(=) p.(=)
?/. - c.*8077C>T VUS r.(=) p.(=)
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