Unique variants in the RFX6 gene

Information The variants shown are described using the NM_173560.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

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     
-?/. 1 - c.123G>A r.(?) p.(Pro41=) - likely benign g.117198561G>A g.116877398G>A RFX6(NM_173560.3):c.123G>A (p.P41=) - RFX6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.223G>C r.(?) p.(Glu75Gln) - likely benign g.117198661G>C g.116877498G>C RFX6(NM_173560.3):c.223G>C (p.E75Q) - RFX6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 1i c.224-12A>G r.spl? p.(=) - pathogenic g.117198947A>G g.116877784A>G IVS1-12A>G - RFX6_000006 - PubMed: Smith 2010, Journal: Smith 2010, OMIM:var0002 - rs587776515 Germline yes 1/6 cases - - - Johan den Dunnen
-/- 1 2 c.313T>G r.(?) p.(Ser105Ala) - benign g.117199048T>G g.116877885T>G - - RFX6_000009 - PubMed: Skopkova et al. 2016 - - Unknown ? - - - - Martina Skopkova
+/+ 1 2i c.380+2T>C r.spl? p.? - pathogenic g.117199117T>C g.116877954T>C IVS2+2T>C - RFX6_000004 homozygosity mapping 2 sibs PubMed: Smith 2010, Journal: Smith 2010, OMIM:var0001 - rs587776514 Germline yes 1/6 cases - - - Johan den Dunnen
+/+ 1 4 c.541C>T r.(?) p.(Arg181Trp) - pathogenic g.117203566C>T g.116882403C>T - - RFX6_000015 - - - - Germline - - - - - Martina Skopkova
+/+ 1 4 c.542G>A r.(?) p.(Arg181Gln) - pathogenic g.117203567G>A g.116882404G>A G>A R181Q - RFX6_000008 - PubMed: Smith 2010, Journal: Smith 2010, OMIM:var0005 - rs267607013 Germline yes 1/6 cases - - - Johan den Dunnen
+/+ 1 6 c.649T>C r.(?) p.(Ser217Pro) - pathogenic g.117216347T>C g.116895184T>C NCBI b35 g.117323040T>C - RFX6_000003 - PubMed: Smith 2010, Journal: Smith 2010, OMIM:var0004 - rs267607012 Germline yes 1/6 cases - - - Johan den Dunnen
+/+ 1 6i c.672+2T>G r.spl p.? - pathogenic g.117216372T>G g.116895209T>G IVS6+2T>G - RFX6_000005 - PubMed: Smith 2010, Journal: Smith 2010, OMIM:var0003 - rs587776516 Germline yes 1/6 cases - - - Johan den Dunnen
+/+ 1 7_7i c.777_780+11del r.spl p.? - pathogenic g.117232202_117232216del g.116911039_116911053del ACAAGgtatcaat del - RFX6_000007 deletion acc. Fig.5 ACAAGgtatcaatt (1 longer) PubMed: Smith 2010, Journal: Smith 2010, OMIM:var0006 - - Germline yes 1/6 cases - - - Johan den Dunnen
+/+ 1 7 c.779A>C r.(?) p.(Lys260Thr) - pathogenic g.117232204A>C g.116911041A>C - - RFX6_000011 - - - - Germline - - - - - Martina Skopkova
+/+ 1 7i_8 c.781-2_787delinsG r.spl? p.? - pathogenic g.117237169_117237177delinsG g.116916006_116916014delinsG - - RFX6_000010 - - - - Germline - - - - - Martina Skopkova
+/+ 3 11 c.1154G>A r.(?) p.(Arg385Gln) - pathogenic g.117240431G>A g.116919268G>A - - RFX6_000001 - PubMed: Skopkova et al. 2016 - - Germline, Unknown yes - - - - Martina Skopkova
+/+ 2 12 c.1316_1319del r.(?) p.(Ile439Thrfs*13) - pathogenic g.117241606_117241609del g.116920443_116920446del 1316_1319delTCTA - RFX6_000002 - PubMed: Skopkova et al. 2016 - - Germline yes - - - - Martina Skopkova
?/. 1 - c.1375A>T r.(?) p.(Asn459Tyr) - VUS g.117243252A>T g.116922089A>T RFX6(NM_173560.3):c.1375A>T (p.N459Y) - RFX6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 14 c.1517T>G r.(?) p.(Val506Gly) - pathogenic g.117244349T>G g.116923186T>G - - RFX6_000012 - - - - Germline - - - - - Martina Skopkova
-?/. 1 - c.1638G>A r.(?) p.(Gln546=) - likely benign g.117245914G>A - RFX6(NM_173560.3):c.1638G>A (p.(=)) - RFX6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.1733G>C r.(?) p.(Arg578Pro) - VUS g.117246670G>C g.116925507G>C RFX6(NM_173560.3):c.1733G>C (p.R578P) - RFX6_000018 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs146115506 CLASSIFICATION record, Germline - 7/2793 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.2039C>A r.(?) p.(Thr680Lys) - likely benign g.117248343C>A g.116927180C>A RFX6(NM_173560.3):c.2039C>A (p.T680K) - RFX6_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 17 c.2176C>T r.(?) p.(Arg726*) - pathogenic g.117248480C>T g.116927317C>T - - RFX6_000013 - - - - Germline - - - - - Martina Skopkova
-?/. 1 - c.2369G>A r.(?) p.(Gly790Glu) - likely benign g.117248673G>A g.116927510G>A - - RFX6_000053 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs57924353 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.2398+8T>C r.(=) p.(=) - likely benign g.117248710T>C g.116927547T>C RFX6(NM_173560.3):c.2398+8T>C (p.(=)) - RFX6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.2399G>C r.(?) p.(Gly800Ala) - VUS g.117249922G>C g.116928759G>C RFX6(NM_173560.3):c.2399G>C (p.G800A) - RFX6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.2534A>G r.(?) p.(Asp845Gly) - VUS g.117250057A>G g.116928894A>G RFX6(NM_173560.3):c.2534A>G (p.D845G) - RFX6_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 18 c.2596C>T r.(?) p.(Arg866*) - pathogenic g.117250119C>T g.116928956C>T - - RFX6_000014 - - - - Germline - - - - - Martina Skopkova
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