### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HSPB3)
# 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}}"
"HSPB3" "heat shock 27kDa protein 3" "5" "q11.2" "unknown" "NG_027758.1" "UD_132118380218" "" "http://www.LOVD.nl/HSPB3" "" "1" "5248" "8988" "604624" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "http://databases.lovd.nl/shared/refseq/HSPB3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2016-01-12 07:30:23" "00000" "2023-11-27 17:35:39"
## 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}}"
"00009698" "HSPB3" "heat shock 27kDa protein 3" "001" "NM_006308.2" "" "NP_006299.1" "" "" "" "-189" "595" "453" "53751431" "53752214" "" "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}}"
"03319" "HMN2C" "neuropathy, motor, distal, hereditary, type 2C (HMN-2C)" "AD" "613376" "" "" "" "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 = 1
"{{geneid}}" "{{diseaseid}}"
"HSPB3" "03319"
## 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}}"
"00035953" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00035954" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03319
## Count = 0
## 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}}"
"0000036023" "00035953" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036024" "00035954" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000036023" "HSPB3"
"0000036024" "HSPB3"
## 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 = 14
"{{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}}"
"0000063148" "1" "10" "5" "53751901" "53751901" "subst" "0.55255" "01164" "HSPB3_000002" "g.53751901G>A" "" "" "" "" "" "Germline" "" "rs7699" "0" "" "" "g.54456071G>A" "" "benign" ""
"0000063149" "1" "10" "5" "53751988" "53751988" "subst" "0.584762" "01164" "HSPB3_000001" "g.53751988T>C" "" "" "" "" "" "Germline" "" "rs7823" "0" "" "" "g.54456158T>C" "" "benign" ""
"0000246349" "0" "10" "5" "53751974" "53751974" "subst" "0.00366799" "02330" "HSPB3_000005" "g.53751974A>G" "" "" "" "HSPB3(NM_006308.3):c.355A>G (p.K119E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456144A>G" "" "benign" ""
"0000277797" "0" "10" "5" "53751901" "53751901" "subst" "0.55255" "02330" "HSPB3_000002" "g.53751901G>A" "" "" "" "HSPB3(NM_006308.3):c.282G>A (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456071G>A" "" "benign" ""
"0000277798" "0" "10" "5" "53751988" "53751988" "subst" "0.584762" "02330" "HSPB3_000001" "g.53751988T>C" "" "" "" "HSPB3(NM_006308.3):c.369T>C (p.G123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456158T>C" "" "benign" ""
"0000281428" "0" "10" "5" "53751901" "53751901" "subst" "0.55255" "02325" "HSPB3_000002" "g.53751901G>A" "" "" "" "HSPB3(NM_006308.3):c.282G>A (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456071G>A" "" "benign" ""
"0000281429" "0" "10" "5" "53751988" "53751988" "subst" "0.584762" "02325" "HSPB3_000001" "g.53751988T>C" "" "" "" "HSPB3(NM_006308.3):c.369T>C (p.G123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456158T>C" "" "benign" ""
"0000340237" "0" "10" "5" "53751901" "53751901" "subst" "0.55255" "02327" "HSPB3_000002" "g.53751901G>A" "" "" "" "HSPB3(NM_006308.3):c.282G>A (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456071G>A" "" "benign" ""
"0000340238" "0" "10" "5" "53751988" "53751988" "subst" "0.584762" "02327" "HSPB3_000001" "g.53751988T>C" "" "" "" "HSPB3(NM_006308.3):c.369T>C (p.G123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456158T>C" "" "benign" ""
"0000348698" "0" "50" "5" "53752007" "53752007" "subst" "0" "02327" "HSPB3_000004" "g.53752007T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54456177T>C" "" "VUS" ""
"0000525827" "0" "30" "5" "53751886" "53751886" "subst" "0.000199187" "02330" "HSPB3_000006" "g.53751886C>A" "" "" "" "HSPB3(NM_006308.3):c.267C>A (p.T89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54456056C>A" "" "likely benign" ""
"0000720453" "0" "30" "5" "53751664" "53751664" "subst" "4.06547E-6" "02330" "HSPB3_000007" "g.53751664T>C" "" "" "" "HSPB3(NM_006308.3):c.45T>C (p.R15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000720454" "0" "50" "5" "53751854" "53751855" "ins" "1.22005E-5" "02330" "HSPB3_000008" "g.53751854_53751855insT" "" "" "" "HSPB3(NM_006308.3):c.235_236insT (p.Q79Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948563" "0" "50" "5" "53751779" "53751779" "subst" "0" "02330" "HSPB3_000009" "g.53751779C>A" "" "" "" "HSPB3(NM_006308.3):c.160C>A (p.P54T)" "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 HSPB3
## Count = 14
"{{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}}"
"0000063148" "00009698" "10" "282" "0" "282" "0" "c.282G>A" "r.(=)" "p.(Leu95=)" "1"
"0000063149" "00009698" "10" "369" "0" "369" "0" "c.369T>C" "r.(=)" "p.(Gly123=)" "1"
"0000246349" "00009698" "10" "355" "0" "355" "0" "c.355A>G" "r.(?)" "p.(Lys119Glu)" ""
"0000277797" "00009698" "10" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Leu94=)" ""
"0000277798" "00009698" "10" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.(Gly123=)" ""
"0000281428" "00009698" "10" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Leu94=)" ""
"0000281429" "00009698" "10" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.(Gly123=)" ""
"0000340237" "00009698" "10" "282" "0" "282" "0" "c.282G>A" "r.(?)" "p.(Leu94=)" ""
"0000340238" "00009698" "10" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.(Gly123=)" ""
"0000348698" "00009698" "50" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(Ser130Pro)" ""
"0000525827" "00009698" "30" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Thr89=)" ""
"0000720453" "00009698" "30" "45" "0" "45" "0" "c.45T>C" "r.(?)" "p.(Arg15=)" ""
"0000720454" "00009698" "50" "235" "0" "236" "0" "c.235_236insT" "r.(?)" "p.(Gln79Leufs*5)" ""
"0000948563" "00009698" "50" "160" "0" "160" "0" "c.160C>A" "r.(?)" "p.(Pro54Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000036023" "0000063148"
"0000036024" "0000063149"