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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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 r.(?) p.(Arg9Trp) - likely pathogenic g.209974734G>A g.209801389G>A - - IRF6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.175-5C>G r.spl? p.? - benign g.209969902G>C g.209796557G>C IRF6(NM_006147.3):c.175-5C>G - IRF6_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.206A>G r.(?) p.(Glu69Gly) - likely pathogenic g.209969866T>C g.209796521T>C IRF6(NM_006147.3):c.206A>G (p.E69G) - IRF6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.239A>G r.(?) p.(Lys80Arg) - VUS g.209969833T>C g.209796488T>C - - IRF6_000051 - PubMed: Malik 2010 - - Germline - - - 0 - Johan den Dunnen
-/. - c.459G>T r.(?) p.(Ser153=) - benign g.209968684C>A g.209795339C>A IRF6(NM_006147.3):c.459G>T (p.S153=) - IRF6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.521C>T r.(?) p.(Ala174Val) - VUS g.209965760G>A g.209792415G>A - - IRF6_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.622C>T r.(?) p.(Gln208Ter) - VUS g.209965659G>A g.209792314G>A IRF6(NM_006147.3):c.622C>T (p.Q208*) - IRF6_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.673G>C r.(?) p.(Asp225His) - pathogenic g.209964227C>G - - - IRF6_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.748C>T r.(?) p.(Arg250*) ACMG likely pathogenic g.209964152G>A g.209790807G>A - - IRF6_000065 ACMG: PVS1,PM2; cleft lip and palate, younger brother, sister of the mother and her daughter, brother of the mother as well as grandmother mtls also affected; Recent miscarriages; Desmyter et al. 2010. Mol Syndromol 1: 67 - - - Germline - - - 0 - Andreas Laner
+?/. - c.819G>C r.(?) p.(Gln273His) - likely pathogenic g.209964081C>G g.209790736C>G IRF6(NM_006147.3):c.819G>C (p.Q273H) - IRF6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.901G>A r.(?) p.(Gly301Arg) - VUS g.209963999C>T g.209790654C>T IRF6(NM_006147.3):c.901G>A (p.G301R) - IRF6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.997G>A r.(?) p.(Ala333Thr) - likely benign g.209963903C>T g.209790558C>T IRF6(NM_006147.3):c.997G>A (p.A333T) - IRF6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.1052T>C r.(?) p.(Phe351Ser) - likely pathogenic (dominant) g.209963848A>G - - - IRF6_000067 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.1060G>A r.(?) p.(Asp354Asn) - VUS g.209963840C>T - IRF6(NM_006147.3):c.1060G>A (p.D354N) - IRF6_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1139C>A r.(?) p.(Pro380Gln) - pathogenic g.209963052G>T g.209789707G>T - - C1orf74_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1179+68T>C r.(=) p.(=) - benign g.209962944A>G g.209789599A>G IRF6(NM_006147.3):c.1179+68T>C - IRF6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1198C>T r.(?) p.(Arg400Trp) - pathogenic g.209961971G>A g.209788626G>A IRF6(NM_006147.3):c.1198C>T (p.R400W) - IRF6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1210G>A r.(?) p.(Glu404Lys) - pathogenic g.209961959C>T g.209788614C>T - - C1orf74_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1259_1275del r.(?) p.(Arg420Profs*6) - likely pathogenic g.209961896_209961912del g.209788551_209788567del - - IRF6_000062 - - - - Germline/De novo (untested) - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.1318T>C r.(?) p.(Tyr440His) - VUS g.209961851A>G g.209788506A>G IRF6(NM_001206696.1):c.1033T>C (p.(Tyr345His)) - C1orf74_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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