### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GNB4) # 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}}" "GNB4" "guanine nucleotide binding protein (G protein), beta polypeptide 4" "3" "q27.1" "unknown" "NG_033163.1" "UD_136020841665" "" "http://www.LOVD.nl/GNB4" "" "1" "20731" "59345" "610863" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/GNB4_codingDNA.htm" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2013-03-01 00:00:00" "00006" "2019-12-30 12:57:36" "00000" "2025-07-08 13:22:38" ## 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}}" "00008656" "GNB4" "guanine nucleotide binding protein (G protein), beta polypeptide 4" "001" "NM_021629.3" "" "NP_067642.1" "" "" "" "-280" "6148" "1023" "179169371" "179113876" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "03849" "CMTDIF" "Charcot-Marie-Tooth disease, dominant intermediate, type F (CMTDIF)" "AD" "615185" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GNB4" "03849" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00056471" "" "" "" "8" "" "00006" "{PMID:Soong 2013:23434117}" "4-generation family, 8 affecteds" "-" "no" "China" "" "0" "" "" "" "" "00056472" "" "" "" "1" "" "00006" "{PMID:Soong 2013:23434117}" "2-generation family, unaffected parents" "F" "" "China" ">9y" "0" "" "" "" "" "00273169" "" "" "" "1" "" "02061" "" "" "M" "" "Saudi Arabia" "" "0" "" "" "Arab" "" "00293281" "" "" "" "77" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304938" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00056471" "05113" "00056472" "05113" "00273169" "00291" "00293281" "00198" "00304938" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00291, 03849, 05113 ## Count = 2 "{{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/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000043159" "05113" "00056471" "00006" "Familial, autosomal dominant" "" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "" "" "" "" "" "" "0000043160" "05113" "00056472" "00006" "Isolated (sporadic)" "" "slowly progressive weakness distal lower limbs" "5y" "" "weakness distal lower limbs" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056432" "00056471" "1" "00006" "00006" "2013-03-15 19:39:16" "00006" "2013-03-22 13:56:32" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000056433" "00056472" "1" "00006" "00006" "2013-03-15 19:39:16" "00006" "2013-03-22 13:55:40" "SEQ" "DNA" "" "" "0000274324" "00273169" "1" "02061" "02061" "2019-12-20 18:28:23" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000294449" "00293281" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306067" "00304938" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000056432" "GNB4" "0000056433" "GNB4" ## 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 = 29 "{{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}}" "0000086679" "1" "90" "3" "179134283" "179134283" "subst" "0" "00006" "GNB4_000001" "g.179134283T>C" "1/251 families" "{PMID:Soong 2013:23434117}" "" "" "linkage, exome sequencing; not in 1920 control chromosomes" "Germline" "yes" "" "0" "" "" "g.179416495T>C" "" "pathogenic" "" "0000086680" "1" "90" "3" "179137232" "179137232" "subst" "0" "00006" "GNB4_000002" "g.179137232C>T" "1/251 families" "{PMID:Soong 2013:23434117}" "" "" "de novo in patient; not in 1920 control chromosomes" "De novo" "-" "" "0" "" "" "g.179419444C>T" "" "pathogenic" "" "0000086729" "0" "90" "3" "179134283" "179134283" "subst" "0" "00006" "GNB4_000001" "g.179134283T>C" "1/251 families" "{PMID:Soong 2013:23434117}" "" "" "expression cloning, no effect protein stability, reduced bradykinin-induced PLCbeta2 activation" "In vitro (cloned)" "-" "" "0" "" "" "g.179416495T>C" "" "NA" "" "0000086730" "0" "90" "3" "179137232" "179137232" "subst" "0" "00006" "GNB4_000002" "g.179137232C>T" "1/251 families" "{PMID:Soong 2013:23434117}" "" "" "expression cloning, no effect protein stability, reduced bradykinin-induced PLCbeta2 activation" "In vitro (cloned)" "-" "" "0" "" "" "g.179419444C>T" "" "NA" "" "0000246124" "0" "10" "3" "179143941" "179143941" "subst" "0.0333117" "02330" "GNB4_000006" "g.179143941A>G" "" "" "" "GNB4(NM_021629.4):c.48T>C (p.N16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179426153A>G" "" "benign" "" "0000277348" "0" "10" "3" "179118998" "179118998" "subst" "0.191213" "02330" "GNB4_000003" "g.179118998C>T" "" "" "" "GNB4(NM_021629.4):c.*3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179401210C>T" "" "benign" "" "0000277349" "0" "50" "3" "179123184" "179123184" "subst" "4.09507E-6" "02330" "GNB4_000005" "g.179123184T>C" "" "" "" "GNB4(NM_021629.4):c.710A>G (p.N237S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179405396T>C" "" "VUS" "" "0000277350" "0" "30" "3" "179119066" "179119066" "subst" "0.00428403" "02330" "GNB4_000004" "g.179119066C>T" "" "" "" "GNB4(NM_021629.4):c.958G>A (p.V320I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.179401278C>T" "" "likely benign" "" "0000518541" "0" "30" "3" "179131386" "179131386" "subst" "7.31065E-5" "02330" "GNB4_000007" "g.179131386G>A" "" "" "" "GNB4(NM_021629.4):c.513C>T (p.I171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179413598G>A" "" "likely benign" "" "0000518542" "0" "30" "3" "179134347" "179134347" "subst" "3.03385E-5" "01943" "GNB4_000008" "g.179134347A>G" "" "" "" "GNB4(NM_021629.3):c.204-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179416559A>G" "" "likely benign" "" "0000518543" "0" "10" "3" "179137204" "179137204" "subst" "0.00177548" "02330" "GNB4_000009" "g.179137204A>G" "" "" "" "GNB4(NM_021629.4):c.186T>C (p.H62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179419416A>G" "" "benign" "" "0000518544" "0" "10" "3" "179137273" "179137273" "subst" "0.476276" "02330" "GNB4_000010" "g.179137273A>G" "" "" "" "GNB4(NM_021629.4):c.117T>C (p.S39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179419485A>G" "" "benign" "" "0000518545" "0" "50" "3" "179138687" "179138687" "subst" "1.25519E-5" "01943" "GNB4_000011" "g.179138687G>A" "" "" "" "GNB4(NM_021629.3):c.86C>T (p.T29M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179420899G>A" "" "VUS" "" "0000621215" "0" "30" "3" "179123009" "179123009" "subst" "2.43738E-5" "02330" "GNB4_000012" "g.179123009A>G" "" "" "" "GNB4(NM_021629.4):c.885T>C (p.N295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.179405221A>G" "" "likely benign" "" "0000628279" "3" "50" "3" "179131231" "179131231" "subst" "0.000125992" "02061" "GNB4_000013" "g.179131231G>A" "" "" "" "" "" "Germline" "" "rs144385061" "0" "" "" "g.179413443G>A" "" "VUS" "" "0000651138" "1" "10" "3" "179143941" "179143941" "subst" "0.0333117" "03575" "GNB4_000006" "g.179143941A>G" "77/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "77 heterozygous; {DB:CLININrs1078749}" "Germline" "" "rs1078749" "0" "" "" "g.179426153A>G" "" "benign" "" "0000669755" "3" "10" "3" "179143941" "179143941" "subst" "0.0333117" "03575" "GNB4_000006" "g.179143941A>G" "2/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs1078749}" "Germline" "" "rs1078749" "0" "" "" "g.179426153A>G" "" "benign" "" "0000688986" "0" "30" "3" "179132770" "179132770" "subst" "0" "01943" "GNB4_000014" "g.179132770A>G" "" "" "" "GNB4(NM_021629.3):c.333T>C (p.Y111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858899" "0" "50" "3" "179123091" "179123091" "subst" "4.06237E-6" "02329" "GNB4_000015" "g.179123091T>C" "" "" "" "GNB4(NM_021629.4):c.803A>G (p.N268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885639" "0" "10" "3" "179119066" "179119066" "subst" "0.00428403" "02326" "GNB4_000004" "g.179119066C>T" "" "" "" "GNB4(NM_021629.4):c.958G>A (p.V320I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885640" "0" "50" "3" "179131325" "179131325" "subst" "4.87373E-5" "02330" "GNB4_000016" "g.179131325A>C" "" "" "" "GNB4(NM_021629.4):c.574T>G (p.L192V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885641" "0" "30" "3" "179138733" "179138733" "subst" "1.69022E-5" "02330" "GNB4_000017" "g.179138733G>A" "" "" "" "GNB4(NM_021629.4):c.58-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911864" "0" "10" "3" "179138729" "179138729" "dup" "0" "02330" "GNB4_000018" "g.179138729dup" "" "" "" "GNB4(NM_021629.4):c.58-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923876" "0" "30" "3" "179119126" "179119126" "subst" "2.51052E-5" "02326" "GNB4_000019" "g.179119126A>G" "" "" "" "GNB4(NM_021629.4):c.917-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948081" "0" "50" "3" "179131512" "179131512" "subst" "0" "02330" "GNB4_000020" "g.179131512T>A" "" "" "" "GNB4(NM_021629.4):c.488A>T (p.D163V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013844" "0" "30" "3" "179123197" "179123197" "subst" "0" "02330" "GNB4_000021" "g.179123197A>G" "" "" "" "GNB4(NM_021629.4):c.700-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024745" "0" "50" "3" "179123094" "179123094" "subst" "0" "02330" "GNB4_000022" "g.179123094T>C" "" "" "" "GNB4(NM_021629.4):c.800A>G (p.D267G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033809" "0" "50" "3" "179131358" "179131358" "subst" "0" "02330" "GNB4_000023" "g.179131358T>C" "" "" "" "GNB4(NM_021629.4):c.541A>G (p.T181A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045888" "0" "30" "3" "179131582" "179131582" "subst" "4.0845E-6" "02326" "GNB4_000024" "g.179131582G>A" "" "" "" "GNB4(NM_021629.4):c.431-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 GNB4 ## Count = 29 "{{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}}" "0000086679" "00008656" "90" "265" "0" "265" "0" "c.265A>G" "r.256a>g" "p.Lys89Glu" "5" "0000086680" "00008656" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "4" "0000086729" "00008656" "90" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.Lys89Glu" "5" "0000086730" "00008656" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "4" "0000246124" "00008656" "10" "48" "0" "48" "0" "c.48T>C" "r.(?)" "p.(Asn16=)" "" "0000277348" "00008656" "10" "1026" "0" "1026" "0" "c.*3G>A" "r.(=)" "p.(=)" "" "0000277349" "00008656" "50" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Asn237Ser)" "" "0000277350" "00008656" "30" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Ile)" "" "0000518541" "00008656" "30" "513" "0" "513" "0" "c.513C>T" "r.(?)" "p.(Ile171=)" "" "0000518542" "00008656" "30" "204" "-3" "204" "-3" "c.204-3T>C" "r.spl?" "p.?" "" "0000518543" "00008656" "10" "186" "0" "186" "0" "c.186T>C" "r.(?)" "p.(His62=)" "" "0000518544" "00008656" "10" "117" "0" "117" "0" "c.117T>C" "r.(?)" "p.(Ser39=)" "" "0000518545" "00008656" "50" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Thr29Met)" "" "0000621215" "00008656" "30" "885" "0" "885" "0" "c.885T>C" "r.(?)" "p.(Asn295=)" "" "0000628279" "00008656" "50" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Met)" "" "0000651138" "00008656" "10" "48" "0" "48" "0" "c.48T>C" "r.(=)" "p.(=)" "" "0000669755" "00008656" "10" "48" "0" "48" "0" "c.48T>C" "r.(=)" "p.(=)" "" "0000688986" "00008656" "30" "333" "0" "333" "0" "c.333T>C" "r.(?)" "p.(Tyr111=)" "" "0000858899" "00008656" "50" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Asn268Ser)" "" "0000885639" "00008656" "10" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Ile)" "" "0000885640" "00008656" "50" "574" "0" "574" "0" "c.574T>G" "r.(?)" "p.(Leu192Val)" "" "0000885641" "00008656" "30" "58" "-18" "58" "-18" "c.58-18C>T" "r.(=)" "p.(=)" "" "0000911864" "00008656" "10" "58" "-8" "58" "-8" "c.58-8dup" "r.(=)" "p.(=)" "" "0000923876" "00008656" "30" "917" "-19" "917" "-19" "c.917-19T>C" "r.(=)" "p.(=)" "" "0000948081" "00008656" "50" "488" "0" "488" "0" "c.488A>T" "r.(?)" "p.(Asp163Val)" "" "0001013844" "00008656" "30" "700" "-3" "700" "-3" "c.700-3T>C" "r.spl?" "p.?" "" "0001024745" "00008656" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Asp267Gly)" "" "0001033809" "00008656" "50" "541" "0" "541" "0" "c.541A>G" "r.(?)" "p.(Thr181Ala)" "" "0001045888" "00008656" "30" "431" "-13" "431" "-13" "c.431-13C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000056432" "0000086679" "0000056433" "0000086680" "0000274324" "0000628279" "0000294449" "0000651138" "0000306067" "0000669755"