Transcript #00010139

Transcript name transcript variant 1
Gene name IRF6 (interferon regulatory factor 6)
Chromosome 1
Transcript - NCBI ID NM_006147.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006138.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. - c.25C>T likely pathogenic r.(?) p.(Arg9Trp)
-/. - c.175-5C>G benign r.spl? p.?
+?/. - c.206A>G likely pathogenic r.(?) p.(Glu69Gly)
?/. - c.239A>G - r.(?) p.(Lys80Arg)
-/. - c.459G>T benign r.(?) p.(=)
?/. - c.521C>T VUS r.(?) p.(Ala174Val)
?/. - c.622C>T VUS r.(?) p.(Gln208*)
+?/. - c.819G>C likely pathogenic r.(?) p.(Gln273His)
?/. - c.901G>A VUS r.(?) p.(Gly301Arg)
-?/. - c.997G>A likely benign r.(?) p.(Ala333Thr)
+/. - c.1139C>A pathogenic r.(?) p.(Pro380Gln)
-/. - c.1179+68T>C benign r.(=) p.(=)
+/. - c.1198C>T pathogenic r.(?) p.(Arg400Trp)
+/. - c.1210G>A pathogenic r.(?) p.(Glu404Lys)
+?/. - c.1259_1275del likely pathogenic r.(?) p.(Arg420Profs*6)
?/. - c.1318T>C VUS r.(?) p.(Tyr440His)
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