### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HSPA4L) # 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}}" "HSPA4L" "heat shock 70kDa protein 4-like" "4" "q28" "unknown" "NC_000004.11" "UD_132610769212" "" "https://www.LOVD.nl/HSPA4L" "" "1" "17041" "22824" "0" "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" "2017-11-11 21:00:17" "00000" "2020-06-16 14:48:24" ## 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}}" "00009685" "HSPA4L" "heat shock 70kDa protein 4-like" "001" "NM_014278.2" "" "NP_055093.2" "" "" "" "-253" "3013" "2520" "128703453" "128754522" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00132976" "" "" "" "2" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "2-genertion family, heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "29100090-FamDC17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00132976" "05342" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05342 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000105737" "05342" "00132976" "00006" "Unknown" "" "CAKUT, renal agenesis left, vesicoureteral reflux, hydronephrosis; coarctation aortae, absent gallbladder, bifid uvula" "" "" "" "" "" "" "" "" ## 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}}" "0000133810" "00132976" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000133810" "HSPA4L" ## 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 = 4 "{{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}}" "0000223238" "11" "70" "4" "128726278" "128726278" "subst" "0" "00006" "HSPA4L_000001" "g.128726278C>T" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.127805123C>T" "" "likely pathogenic" "" "0000609072" "0" "30" "4" "128748500" "128748500" "subst" "0" "01804" "HSPA4L_000003" "g.128748500A>C" "" "" "" "HSPA4L(NM_014278.2):c.2087A>C (p.(Glu696Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127827345A>C" "" "likely benign" "" "0000655094" "0" "50" "4" "128732794" "128732794" "dup" "0" "01804" "HSPA4L_000004" "g.128732794dup" "" "" "" "HSPA4L(NM_014278.2):c.1578+3dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127811639dup" "" "VUS" "" "0000655095" "0" "50" "4" "128743972" "128743972" "subst" "0" "01804" "HSPA4L_000005" "g.128743972A>G" "" "" "" "HSPA4L(NM_014278.2):c.1861A>G (p.(Lys621Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.127822817A>G" "" "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 HSPA4L ## Count = 4 "{{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}}" "0000223238" "00009685" "70" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Arg346*)" "" "0000609072" "00009685" "30" "2087" "0" "2087" "0" "c.2087A>C" "r.(?)" "p.(Glu696Ala)" "" "0000655094" "00009685" "50" "1578" "3" "1578" "3" "c.1578+3dup" "r.spl?" "p.?" "" "0000655095" "00009685" "50" "1861" "0" "1861" "0" "c.1861A>G" "r.(?)" "p.(Lys621Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000133810" "0000223238"