All transcript variants in gene IRF6

This database is one of the "Cleft lip and palate" gene variant databases.
Information The variants shown are described using the NM_006147.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.25C>T likely pathogenic r.(?) p.(Arg9Trp) g.209974734G>A - - - IRF6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.175-5C>G benign r.spl? p.? g.209969902G>C - IRF6(NM_006147.3):c.175-5C>G - IRF6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.206A>G likely pathogenic r.(?) p.(Glu69Gly) g.209969866T>C - IRF6(NM_006147.3):c.206A>G (p.E69G) - IRF6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.239A>G - r.(?) p.(Lys80Arg) g.209969833T>C g.209796488T>C - - IRF6_000051 - PubMed: Malik 2010 - - Germline - - - 0 - Johan den Dunnen
-/. - c.459G>T benign r.(?) p.(=) g.209968684C>A - IRF6(NM_006147.3):c.459G>T (p.S153=) - IRF6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.521C>T VUS r.(?) p.(Ala174Val) g.209965760G>A - - - IRF6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.622C>T VUS r.(?) p.(Gln208*) g.209965659G>A - IRF6(NM_006147.3):c.622C>T (p.Q208*) - IRF6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.819G>C likely pathogenic r.(?) p.(Gln273His) g.209964081C>G - IRF6(NM_006147.3):c.819G>C (p.Q273H) - IRF6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.901G>A VUS r.(?) p.(Gly301Arg) g.209963999C>T - IRF6(NM_006147.3):c.901G>A (p.G301R) - IRF6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.997G>A likely benign r.(?) p.(Ala333Thr) g.209963903C>T - IRF6(NM_006147.3):c.997G>A (p.A333T) - IRF6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1139C>A pathogenic r.(?) p.(Pro380Gln) g.209963052G>T - - - C1orf74_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1179+68T>C benign r.(=) p.(=) g.209962944A>G - IRF6(NM_006147.3):c.1179+68T>C - IRF6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1198C>T pathogenic r.(?) p.(Arg400Trp) g.209961971G>A - IRF6(NM_006147.3):c.1198C>T (p.R400W) - IRF6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1210G>A pathogenic r.(?) p.(Glu404Lys) g.209961959C>T - - - C1orf74_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1259_1275del likely pathogenic r.(?) p.(Arg420Profs*6) g.209961894_209961910del - - - IRF6_000062 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.1318T>C VUS r.(?) p.(Tyr440His) g.209961851A>G - IRF6(NM_001206696.1):c.1033T>C (p.(Tyr345His)) - C1orf74_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend