### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RFXANK) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "RFXANK" "regulatory factor X-associated ankyrin-containing protein" "19" "p12" "unknown" "NC_000019.9" "UD_132084532953" "" "https://www.LOVD.nl/RFXANK" "" "1" "9987" "8625" "603200" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-07-02 14:39:58" "00006" "2026-07-02 14:43:50" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017679" "RFXANK" "transcript variant 1" "001" "NM_003721.2" "" "NP_003712.1" "" "" "" "-505" "933" "783" "19303008" "19312678" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "07271" "MHC2D2" "MHC class II deficiency, type 2" "AR" "620815" "" "" "" "00006" "2026-07-02 14:41:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RFXANK" "07271" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00292069" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00480568" "" "" "" "1" "" "00006" "{PMID:Nava 2024:40379786}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00292069" "00198" "00480568" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 07271 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000364993" "00198" "00480568" "00006" "Familial, autosomal recessive" "" "wide mouth; duplicated collecting system; abnormality of malar bones; hypertelorism; triangular face; downslanted palpebral fissures; hypertriglyceridemia; renal malrotation; generalized lipodystrophy" "" "" "" "" "" "" "" "MHC2D2" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293237" "00292069" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000482214" "00480568" "1" "00006" "00006" "2026-07-02 14:20:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 17 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000251636" "0" "10" "19" "19310047" "19310047" "subst" "0.00737142" "02326" "RFXANK_000002" "g.19310047A>G" "" "" "" "RFXANK(NM_003721.2):c.712+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19199238A>G" "" "benign" "" "0000301446" "0" "10" "19" "19304899" "19304899" "subst" "0.053125" "02326" "RFXANK_000001" "g.19304899G>C" "" "" "" "RFXANK(NM_003721.2):c.144G>C (p.E48D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19194090G>C" "" "benign" "" "0000343896" "0" "90" "19" "19308354" "19308354" "subst" "0" "02327" "RFXANK_000004" "g.19308354A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19197545A>T" "" "pathogenic" "" "0000345035" "0" "90" "19" "19304811" "19304811" "subst" "0" "02327" "RFXANK_000003" "g.19304811C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19194002C>G" "" "pathogenic" "" "0000348750" "0" "70" "19" "19308954" "19308954" "subst" "0" "02327" "RFXANK_000005" "g.19308954C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19198145C>A" "" "likely pathogenic" "" "0000566704" "0" "30" "19" "19310062" "19310062" "subst" "1.22066E-5" "02326" "MEF2BNB_000001" "g.19310062G>C" "" "" "" "RFXANK(NM_003721.2):c.712+19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19199253G>C" "" "likely benign" "" "0000566705" "0" "30" "19" "19312510" "19312510" "subst" "0.000407272" "02326" "MEF2BNB_000002" "g.19312510G>A" "" "" "" "RFXANK(NM_003721.2):c.765G>A (p.V255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19201701G>A" "" "likely benign" "" "0000617485" "0" "50" "19" "19304942" "19304942" "subst" "9.33972E-5" "01943" "MEF2B_000001" "g.19304942G>A" "" "" "" "RFXANK(NM_003721.2):c.187G>A (p.A63T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19194133G>A" "" "VUS" "" "0000649926" "1" "50" "19" "19310037" "19310037" "subst" "0.000109754" "03575" "RFXANK_000001" "g.19310037C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143964319}" "Germline" "" "rs143964319" "0" "" "" "g.19199228C>T" "" "VUS" "" "0000727220" "0" "50" "19" "19304942" "19304942" "subst" "9.33972E-5" "02327" "MEF2B_000001" "g.19304942G>A" "" "" "" "RFXANK(NM_003721.2):c.187G>A (p.A63T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808784" "0" "30" "19" "19308954" "19308954" "subst" "2.43679E-5" "01943" "MEF2BNB_000003" "g.19308954C>T" "" "" "" "RFXANK(NM_003721.2):c.477C>T (p.S159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855494" "0" "30" "19" "19308064" "19308064" "subst" "0.00409976" "02326" "MEF2B_000004" "g.19308064C>T" "" "" "" "RFXANK(NM_003721.2):c.337+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866004" "0" "50" "19" "19309499" "19309499" "subst" "1.62701E-5" "01943" "MEF2BNB_000004" "g.19309499G>A" "" "" "" "RFXANK(NM_003721.2):c.598G>A (p.G200R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894890" "0" "70" "19" "19304942" "19304942" "subst" "9.33972E-5" "02326" "MEF2B_000001" "g.19304942G>A" "" "" "" "RFXANK(NM_003721.2):c.187G>A (p.A63T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894891" "0" "30" "19" "19308014" "19308014" "subst" "2.03302E-5" "02326" "MEF2B_000005" "g.19308014C>T" "" "" "" "RFXANK(NM_003721.2):c.291C>T (p.L97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915179" "0" "30" "19" "19307755" "19307755" "subst" "2.48174E-5" "02326" "MEF2B_000006" "g.19307755T>C" "" "" "" "RFXANK(NM_003721.2):c.188-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001079275" "3" "70" "19" "19308279" "19308330" "del" "0" "00006" "RFXANK_000006" "g.19308279_19308330del" "" "{PMID:Nava 2024:40379786}" "" "" "" "De novo" "" "" "0" "" "" "g.19197470_19197521del" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RFXANK ## Count = 17 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000251636" "00017679" "10" "712" "4" "712" "4" "c.712+4A>G" "r.spl?" "p.?" "" "0000301446" "00017679" "10" "144" "0" "144" "0" "c.144G>C" "r.(?)" "p.(Glu48Asp)" "" "0000343896" "00017679" "90" "362" "0" "362" "0" "c.362A>T" "r.(?)" "p.(Asp121Val)" "" "0000345035" "00017679" "90" "56" "0" "56" "0" "c.56C>G" "r.(?)" "p.(Ser19Ter)" "" "0000348750" "00017679" "70" "477" "0" "477" "0" "c.477C>A" "r.(?)" "p.(Ser159Arg)" "" "0000566704" "00017679" "30" "712" "19" "712" "19" "c.712+19G>C" "r.(=)" "p.(=)" "" "0000566705" "00017679" "30" "765" "0" "765" "0" "c.765G>A" "r.(?)" "p.(Val255=)" "" "0000617485" "00017679" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "" "0000649926" "00017679" "50" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236Trp)" "" "0000727220" "00017679" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "" "0000808784" "00017679" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Ser159=)" "" "0000855494" "00017679" "30" "337" "4" "337" "4" "c.337+4C>T" "r.spl?" "p.?" "" "0000866004" "00017679" "50" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Gly200Arg)" "" "0000894890" "00017679" "70" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "" "0000894891" "00017679" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Leu97=)" "" "0000915179" "00017679" "30" "188" "-17" "188" "-17" "c.188-17T>C" "r.(=)" "p.(=)" "" "0001079275" "00017679" "70" "338" "-51" "338" "0" "c.338-51_338del" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000293237" "0000649926" "0000482214" "0001079275"