### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRAP) # 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}}" "GRAP" "GRB2-related adaptor protein" "17" "p11.2" "unknown" "NC_000017.10" "UD_136022229710" "" "https://www.LOVD.nl/GRAP" "" "1" "4562" "10750" "604330" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-23 16:04:42" "00000" "2025-05-05 21:14:00" ## 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}}" "00008909" "GRAP" "GRB2-related adaptor protein" "001" "NM_006613.3" "" "NP_006604.1" "" "" "" "-97" "1936" "654" "18950336" "18923990" "" "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}}" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "06375" "DFNB114" "Deafness, autosomal recessive 114" "AR" "618456" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GRAP" "05086" "GRAP" "06375" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00183341" "" "" "" "2" "" "00006" "Bademci ASHG2018 P171" "2 unrelated families" "" "" "Iran" "" "0" "" "" "" "ASHG2018-P171" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00183341" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05086, 06375 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000144078" "05086" "00183341" "00006" "Familial, autosomal recessive" "" "autosomal recessive nonsyndromic moderate hearing loss" "" "" "" "" "" "" "" "" "hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184302" "00183341" "1" "00006" "00006" "2018-10-23 15:55:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000184302" "GRAP" ## 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 = 10 "{{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}}" "0000325285" "0" "50" "17" "18918512" "18918529" "dup" "0" "01804" "SLC5A10_000002" "g.18918512_18918529dup" "" "" "" "SLC5A10(NM_001042450.1):c.1239_1240insCGGTACGGGGGTGGGGGC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19015199_19015216dup" "" "VUS" "" "0000339134" "0" "90" "17" "18907183" "18907183" "subst" "0" "02327" "FAM83G_000001" "g.18907183A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19003870A>T" "" "pathogenic" "" "0000408322" "3" "90" "17" "0" "0" "" "0" "00006" "GRAP_000000" "g.?" "" "Bademci ASHG2018 P171" "" "" "" "Germline" "yes" "" "1" "" "" "" "" "pathogenic (recessive)" "" "0000560631" "0" "50" "17" "18872390" "18872393" "del" "0" "01804" "FAM83G_000002" "g.18872390_18872393del" "" "" "" "SLC5A10(NM_152351.4):c.476_479del (p.(Phe160CysfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18969077_18969080del" "" "VUS" "" "0000560634" "0" "30" "17" "18881605" "18881605" "subst" "0.00561461" "01804" "FAM83G_000005" "g.18881605C>A" "" "" "" "FAM83G(NM_001039999.2):c.1374G>T (p.(Gln458His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18978292C>A" "" "likely benign" "" "0000692285" "0" "30" "17" "18925246" "18925246" "subst" "0" "01943" "FAM83G_000007" "g.18925246G>T" "" "" "" "GRAP(NM_001330148.1):c.511C>A (p.R171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854781" "0" "50" "17" "18925387" "18925387" "subst" "0.000183738" "01943" "FAM83G_000008" "g.18925387C>T" "" "" "" "GRAP(NM_006613.3):c.539G>A (p.R180H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968726" "0" "50" "17" "18891678" "18891678" "subst" "0" "02327" "FAM83G_000009" "g.18891678T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968727" "0" "70" "17" "18907093" "18907095" "inv" "0" "02327" "FAM83G_000010" "g.18907093_18907095inv" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041683" "0" "50" "17" "18881091" "18881091" "subst" "0.00248061" "02325" "FAM83G_000004" "g.18881091G>A" "" "" "" "FAM83G(NM_001039999.3):c.1888C>T (p.R630W)" "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 GRAP ## Count = 10 "{{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}}" "0000325285" "00008909" "50" "7398" "0" "7415" "0" "c.*6744_*6761dup" "r.(=)" "p.(=)" "" "0000339134" "00008909" "90" "18743" "0" "18743" "0" "c.*18089T>A" "r.(=)" "p.(=)" "" "0000408322" "00008909" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000560631" "00008909" "50" "53536" "0" "53539" "0" "c.*52882_*52885del" "r.(=)" "p.(=)" "" "0000560634" "00008909" "30" "44321" "0" "44321" "0" "c.*43667G>T" "r.(=)" "p.(=)" "" "0000692285" "00008909" "30" "680" "0" "680" "0" "c.*26C>A" "r.(=)" "p.(=)" "" "0000854781" "00008909" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0000968726" "00008909" "50" "34248" "0" "34248" "0" "c.*33594A>T" "r.(=)" "p.(=)" "" "0000968727" "00008909" "70" "18831" "0" "18833" "0" "c.*18177_*18179inv" "r.(=)" "p.(=)" "" "0001041683" "00008909" "50" "44835" "0" "44835" "0" "c.*44181C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000184302" "0000408322"