### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAB9B) # 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}}" "RAB9B" "RAB9B, member RAS oncogene family" "X" "q22.1-q22.3" "unknown" "NG_016452.1" "UD_132085287065" "" "https://www.LOVD.nl/RAB9B" "" "1" "14090" "51209" "300285" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/RAB9B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2017-04-21 16:01:33" "00000" "2024-08-28 13:16:32" ## 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}}" "00017289" "RAB9B" "RAB9B, member RAS oncogene family" "001" "NM_016370.2" "" "NP_057454.1" "" "" "" "-339" "3460" "606" "103087212" "103077255" "" "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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "02259" "PMD;HLD1" "Pelizaeus-Merzbacher disease (PMD, hypomyelinative leukodystrophy (HLD-1))" "XLR" "312080" "" "X-linked recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00103862" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377224-Pat?" "00180357" "" "" "" "1" "" "00006" "{PMID:Hübner 2005:15712223}" "2-generation family, 1 affected (M), healthy non-carrier mother" "M" "" "Germany" "" "0" "" "" "" "15712223-Pat?" "00180358" "" "" "" "2" "" "00006" "{PMID:Hübner 2005:15712223}" "2-generation family, 2 affected brothers" "M" "no" "Germany" "" "0" "" "" "" "15712223-Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00103862" "00187" "00180357" "02259" "00180358" "02259" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 02259 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000081780" "00187" "00103862" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000142751" "02259" "00180357" "00006" "Isolated (sporadic)" "" "classic Pelizaeus-Merzbacher disease" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" "0000142752" "02259" "00180358" "00006" "Familial, X-linked recessive" "" "severely handicapped, disease onset shortly after birth" "" "" "" "" "" "" "" "" "PMD" "Pelizaeus-Merzbacher disease" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104313" "00103862" "1" "00124" "00006" "2009-05-19 12:33:15" "00006" "2017-04-21 15:58:19" "SEQ" "DNA" "" "" "0000181293" "00180357" "1" "00006" "00006" "2018-09-04 23:06:15" "" "" "PCR;SEQ" "DNA" "" "" "0000181294" "00180358" "1" "00006" "00006" "2018-09-04 23:17:54" "" "" "PCRq" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000104313" "RAB9B" "0000181293" "PLP1" "0000181293" "RAB9B" "0000181294" "PLP1" "0000181294" "RAB9B" ## 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 = 5 "{{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}}" "0000168993" "1" "30" "X" "103080388" "103080388" "subst" "0.000584152" "00124" "RAB9B_000001" "g.103080388C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "NM_016370:c.327G>A" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.103825458C>T" "" "likely benign" "" "0000404969" "0" "90" "X" "103031923" "103080715" "del" "0" "00006" "PLP1_000046" "g.(103000000_103031923)_(103080715_103140000)del" "" "{PMID:Hübner 2005:15712223}" "" "" "115 kb deletion incl. PLP1 and RAB9B; break point sequenced, not shown" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000404970" "20" "90" "X" "103031923" "103080715" "del" "0" "00006" "PLP1_000046" "g.(103000000_103031923)_(103080715_103140000)del" "" "{PMID:Hübner 2005:15712223}" "" "" "115 kb deletion, incl. PLP1 and RAB9B" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000809740" "0" "30" "X" "103080379" "103080379" "subst" "2.80766E-5" "01943" "RAB9B_000002" "g.103080379C>T" "" "" "" "RAB9B(NM_016370.3):c.336G>A (p.K112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006307" "0" "50" "X" "103080240" "103080240" "subst" "1.11893E-5" "01804" "RAB9B_000003" "g.103080240T>C" "" "" "" "RAB9B(NM_016370.2):c.475A>G (p.(Thr159Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 RAB9B ## Count = 5 "{{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}}" "0000168993" "00017289" "30" "327" "0" "327" "0" "c.327G>A" "r.(=)" "p.(Ala107=)" "3" "0000404969" "00017289" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_3_" "0000404970" "00017289" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_3_" "0000809740" "00017289" "30" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Lys112=)" "" "0001006307" "00017289" "50" "475" "0" "475" "0" "c.475A>G" "r.(?)" "p.(Thr159Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000104313" "0000168993" "0000181293" "0000404969" "0000181294" "0000404970"