Full data view for gene RFX6

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

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.123G>A r.(?) p.(Pro41=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.223G>C r.(?) p.(Glu75Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.224-12A>G r.spl? p.(=) Parent #2 - 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 - 0 - DNA SEQ - - MTCHRS - PubMed: Smith 2010, Journal: Smith 2010 chld from in vitro fertilisation (donated egg) F no - - >09y 0 - - 1 Johan den Dunnen
-/- 2 c.313T>G r.(?) p.(Ser105Ala) Unknown - benign g.117199048T>G g.116877885T>G - - RFX6_000009 - PubMed: Skopkova et al. 2016 - - Unknown ? - - 0 - DNA SEQ-NG-I blood - Healthy/Control - PubMed: Skopkova 2016 - F ? Slovakia (Slovak Republic) Caucasian >34y 0 - - 1 Martina Skopkova
+/+ 2i c.380+2T>C r.spl? p.? Both (homozygous) - 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 - 0 - DNA SEQ, SEQ-NG - - MTCHRS - PubMed: Smith 2010, Journal: Smith 2010, PubMed: Mitchell 2004 4-generation family, 2 affected sibs (F, M), unaffected heterozugous carrier parents (2nd cousins) F yes Pakistan - 00y06m15d 0 - - 2 Johan den Dunnen
+/+ 4 c.541C>T r.(?) p.(Arg181Trp) Both (homozygous) - pathogenic g.117203566C>T g.116882403C>T - - RFX6_000015 - - - - Germline - - - 0 - DNA SEQ - - MTCHRS - PubMed: Zegre Amorim 2015 - F yes Portugal gypsy >00y07m 0 - - 1 Martina Skopkova
+/+ 4 c.542G>A r.(?) p.(Arg181Gln) Both (homozygous) - 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 - 0 - DNA SEQ - - MTCHRS - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Belgium Morrocan 00y03m 0 - - 1 Johan den Dunnen
+/+ 6 c.649T>C r.(?) p.(Ser217Pro) Both (homozygous) - 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 - 0 - DNA SEQ - - MTCHRS - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st-degree cousins) F yes Pakistan - >04y06m 0 - - 1 Johan den Dunnen
+/+ 6i c.672+2T>G r.spl p.? Parent #1 - 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 - 0 - DNA SEQ - - MTCHRS - PubMed: Smith 2010, Journal: Smith 2010 chld from in vitro fertilisation (donated egg) F no - - >09y 0 - - 1 Johan den Dunnen
+/+ 7_7i c.777_780+11del r.spl p.? Both (homozygous) - 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 - 0 - DNA SEQ - - MTCHRS - PubMed: Smith 2010, Journal: Smith 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - 00y02m15d 0 - - 1 Johan den Dunnen
+/+ 7 c.779A>C r.(?) p.(Lys260Thr) Both (homozygous) - pathogenic g.117232204A>C g.116911041A>C - - RFX6_000011 - - - - Germline - - - 0 - DNA SEQ-NG-S - - MTCHRS - PubMed: Conception 2014 - M no Viet Nam - 00y05m 0 - - 1 Martina Skopkova
+/+ 7i_8 c.781-2_787delinsG r.spl? p.? Both (homozygous) - pathogenic g.117237169_117237177delinsG g.116916006_116916014delinsG - - RFX6_000010 - - - - Germline - - - 0 - DNA SEQ peripheral blood - MTCHRS patient 1 PubMed: Spiegel 2011 - M ? Israel Arab >01y09m 0 - - 1 Martina Skopkova
+/+ 11 c.1154G>A r.(?) p.(Arg385Gln) Maternal (confirmed) - pathogenic g.117240431G>A g.116919268G>A - - RFX6_000001 - PubMed: Skopkova et al. 2016 - - Germline yes - - 0 - DNA SEQ-NG-I, SEQ blood - MTCHRS sister1 PubMed: Skopkova 2016 family, 2 affected sisters F no Slovakia (Slovak Republic) caucasian >08y 0 - - 2 Martina Skopkova
+/+ 11 c.1154G>A r.(?) p.(Arg385Gln) Maternal (confirmed) - pathogenic g.117240431G>A g.116919268G>A - - RFX6_000001 - PubMed: Skopkova et al. 2016 - - Germline yes - - 0 - DNA SEQ-NG-I, SEQ blood - MTCHRS sister 2 PubMed: Skopkova 2016 - F no Slovakia (Slovak Republic) caucasian >13y 0 - - 1 Martina Skopkova
+/+ 11 c.1154G>A r.(?) p.(Arg385Gln) Unknown - pathogenic g.117240431G>A g.116919268G>A - - RFX6_000001 - PubMed: Skopkova et al. 2016 - - Unknown yes - - 0 - DNA SEQ-NG-I, SEQ blood - Healthy/Control - PubMed: Skopkova 2016 - F ? Slovakia (Slovak Republic) Caucasian >34y 0 - - 1 Martina Skopkova
+/+ 12 c.1316_1319del r.(?) p.(Ile439Thrfs*13) Paternal (confirmed) - pathogenic g.117241606_117241609del g.116920443_116920446del 1316_1319delTCTA - RFX6_000002 - PubMed: Skopkova et al. 2016 - - Germline yes - - 0 - DNA SEQ-NG-I, SEQ blood - MTCHRS sister1 PubMed: Skopkova 2016 family, 2 affected sisters F no Slovakia (Slovak Republic) caucasian >08y 0 - - 2 Martina Skopkova
+/+ 12 c.1316_1319del r.(?) p.(Ile439Thrfs*13) Paternal (confirmed) - pathogenic g.117241606_117241609del g.116920443_116920446del - - RFX6_000002 - PubMed: Skopkova et al. 2016 - - Germline yes - - 0 - DNA SEQ-NG-I, SEQ blood - MTCHRS sister 2 PubMed: Skopkova 2016 - F no Slovakia (Slovak Republic) caucasian >13y 0 - - 1 Martina Skopkova
?/. - c.1375A>T r.(?) p.(Asn459Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 14 c.1517T>G r.(?) p.(Val506Gly) Both (homozygous) - pathogenic g.117244349T>G g.116923186T>G - - RFX6_000012 - - - - Germline - - - 0 - DNA SEQ - - MTCHRS - PubMed: Chandra 2014 - F - India - >06y 0 - - 1 Martina Skopkova
-?/. - c.1638G>A r.(?) p.(Gln546=) Unknown - likely benign g.117245914G>A - RFX6(NM_173560.3):c.1638G>A (p.(=)) - RFX6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1733G>C r.(?) p.(Arg578Pro) Unknown - VUS g.117246670G>C g.116925507G>C RFX6(NM_173560.3):c.1733G>C (p.R578P) - RFX6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1733G>C r.(?) p.(Arg578Pro) Parent #1 - VUS g.117246670G>C g.116925507G>C - - RFX6_000018 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146115506 Germline - 7/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
-?/. - c.2039C>A r.(?) p.(Thr680Lys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 17 c.2176C>T r.(?) p.(Arg726*) Maternal (confirmed) - pathogenic g.117248480C>T g.116927317C>T - - RFX6_000013 - - - - Germline - - - 0 - DNA SEQ - - MTCHRS - PubMed: Sansbury 2015 1 family, 2 patients - double first cousins, a female and a male - yes Turkey - >09y 0 - - 2 Martina Skopkova
-?/. - c.2369G>A r.(?) p.(Gly790Glu) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.2398+8T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2399G>C r.(?) p.(Gly800Ala) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2399G>C r.(?) p.(Gly800Ala) Unknown - VUS g.117249922G>C - RFX6(NM_173560.3):c.2399G>C (p.G800A) - RFX6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2534A>G r.(?) p.(Asp845Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/+ 18 c.2596C>T r.(?) p.(Arg866*) Paternal (confirmed) - pathogenic g.117250119C>T g.116928956C>T - - RFX6_000014 - - - - Germline - - - 0 - DNA SEQ - - MTCHRS - PubMed: Sansbury 2015 1 family, 2 patients - double first cousins, a female and a male - yes Turkey - >09y 0 - - 2 Martina Skopkova
Legend   How to query