### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TEX15) # 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}}" "TEX15" "testis expressed 15" "8" "p22" "unknown" "NG_053141.1" "UD_132446421689" "" "https://www.LOVD.nl/TEX15" "" "1" "11738" "56154" "605795" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-12 19:44:12" "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}}" "00020998" "TEX15" "testis expressed 15" "001" "NM_031271.3" "" "NP_112561.2" "" "" "" "1" "10112" "8370" "30706533" "30689060" "" "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" "06789" "SPGF25" "Spermatogenic failure 25" "AR" "617960" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TEX15" "06789" ## 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}}" "00261207" "" "" "" "16" "" "00006" "{PMID:Morgan 2019:31397523}" "4-generation family, 16 affected (6F, 10M)" "F;M" "" "" "" "0" "" "" "Europe" "Fam2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00261207" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05086, 06789 ## 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}}" "0000199712" "05086" "00261207" "00006" "Familial, autosomal dominant" "" "see paper; …" "" "" "" "" "" "" "" "" "autosomal dominant non-syndromic 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}}" "0000262312" "00261207" "1" "00006" "00006" "2019-08-12 19:37:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000262312" "PLS1" ## 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 = 20 "{{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}}" "0000332084" "0" "50" "8" "30700379" "30700379" "subst" "0.000264103" "01804" "TEX15_000001" "g.30700379A>G" "" "" "" "TEX15(NM_031271.3):c.6155T>C (p.(Ile2052Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30842863A>G" "" "VUS" "" "0000332085" "0" "50" "8" "30700808" "30700811" "del" "0" "01804" "TEX15_000002" "g.30700808_30700811del" "" "" "" "TEX15(NM_001350162.2):c.6874_6877delTCAC (p.S2292Kfs*11), TEX15(NM_031271.3):c.5725_5728del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30843292_30843295del" "" "VUS" "" "0000332086" "0" "50" "8" "30700839" "30700840" "del" "0" "01804" "TEX15_000003" "g.30700839_30700840del" "" "" "" "TEX15(NM_001350162.2):c.6848_6849delGA (p.R2283Nfs*22), TEX15(NM_031271.3):c.5699_5700del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30843323_30843324del" "" "VUS" "" "0000332087" "0" "50" "8" "30702803" "30702804" "del" "0" "01804" "TEX15_000004" "g.30702803_30702804del" "" "" "" "TEX15(NM_031271.3):c.3731_3732del (p.(Ile1244LysfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30845287_30845288del" "" "VUS" "" "0000332088" "0" "50" "8" "30703876" "30703878" "del" "0" "01804" "TEX15_000005" "g.30703876_30703878del" "" "" "" "TEX15(NM_031271.3):c.2660_2662del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30846360_30846362del" "" "VUS" "" "0000592606" "11" "70" "8" "30703435" "30703435" "subst" "0" "00006" "TEX15_000009" "g.30703435A>G" "" "{PMID:Morgan 2019:31397523}" "" "NM_001350162.1:c.4258T>C (C420R)" "considered not associated with phenotype" "Germline" "yes" "" "0" "" "" "g.30845919A>G" "" "VUS" "" "0000678375" "0" "50" "8" "30694382" "30694382" "subst" "1.21867E-5" "01943" "TEX15_000010" "g.30694382G>A" "" "" "" "TEX15(NM_001350162.1):c.9418C>T (p.P3140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678376" "0" "30" "8" "30705536" "30705536" "subst" "0.000150486" "01943" "TEX15_000011" "g.30705536C>T" "" "" "" "TEX15(NM_001350162.1):c.2147G>A (p.S716N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964982" "0" "90" "8" "30700839" "30700840" "del" "0" "02325" "TEX15_000003" "g.30700839_30700840del" "" "" "" "TEX15(NM_001350162.2):c.6848_6849delGA (p.R2283Nfs*22), TEX15(NM_031271.3):c.5699_5700del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978182" "0" "30" "8" "30703691" "30703691" "subst" "0.000933208" "01804" "TEX15_000012" "g.30703691G>C" "" "" "" "TEX15(NM_001350162.2):c.3992C>G (p.(Thr1331Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978183" "0" "50" "8" "30704522" "30704522" "subst" "0" "01804" "TEX15_000013" "g.30704522C>T" "" "" "" "TEX15(NM_001350162.2):c.3161G>A (p.(Ser1054Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014440" "0" "50" "8" "30694577" "30694577" "subst" "0.00152398" "02325" "TEX15_000014" "g.30694577C>T" "" "" "" "TEX15(NM_001350162.2):c.9223G>A (p.G3075R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014441" "0" "90" "8" "30700808" "30700811" "del" "0" "02325" "TEX15_000002" "g.30700808_30700811del" "" "" "" "TEX15(NM_001350162.2):c.6874_6877delTCAC (p.S2292Kfs*11), TEX15(NM_031271.3):c.5725_5728del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036936" "0" "90" "8" "30694716" "30694716" "subst" "4.06841E-6" "02325" "TEX15_000015" "g.30694716A>T" "" "" "" "TEX15(NM_001350162.2):c.9084T>A (p.Y3028*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036937" "0" "30" "8" "30694940" "30694940" "subst" "0.000740771" "01804" "TEX15_000016" "g.30694940G>C" "" "" "" "TEX15(NM_001350162.2):c.8860C>G (p.(Leu2954Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036938" "0" "30" "8" "30700386" "30700386" "subst" "0.0016091" "01804" "TEX15_000017" "g.30700386C>T" "" "" "" "TEX15(NM_001350162.2):c.7297G>A (p.(Glu2433Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036939" "0" "30" "8" "30702616" "30702616" "subst" "0.00166303" "01804" "TEX15_000018" "g.30702616C>G" "" "" "" "TEX15(NM_001350162.2):c.5067G>C (p.(Glu1689Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036940" "0" "30" "8" "30702944" "30702944" "subst" "0.000119196" "02325" "TEX15_000019" "g.30702944G>C" "" "" "" "TEX15(NM_001350162.2):c.4739C>G (p.S1580C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036941" "0" "50" "8" "30717500" "30717500" "subst" "0.000428449" "01804" "TEX15_000020" "g.30717500T>G" "" "" "" "TEX15(NM_001350162.2):c.614A>C (p.(Asn205Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046158" "0" "90" "8" "30703647" "30703647" "subst" "0.000244302" "02325" "TEX15_000021" "g.30703647G>A" "" "" "" "TEX15(NM_001350162.2):c.4036C>T (p.R1346*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 TEX15 ## Count = 20 "{{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}}" "0000332084" "00020998" "50" "6155" "0" "6155" "0" "c.6155T>C" "r.(?)" "p.(Ile2052Thr)" "" "0000332085" "00020998" "50" "5725" "0" "5728" "0" "c.5725_5728del" "r.(?)" "p.(Ser1909LysfsTer11)" "" "0000332086" "00020998" "50" "5699" "0" "5700" "0" "c.5699_5700del" "r.(?)" "p.(Arg1900AsnfsTer22)" "" "0000332087" "00020998" "50" "3731" "0" "3732" "0" "c.3731_3732del" "r.(?)" "p.(Ile1244LysfsTer3)" "" "0000332088" "00020998" "50" "2660" "0" "2662" "0" "c.2660_2662del" "r.(?)" "p.(Thr887del)" "" "0000592606" "00020998" "70" "3099" "0" "3099" "0" "c.3099T>C" "r.(?)" "p.(=)" "" "0000678375" "00020998" "50" "8269" "0" "8269" "0" "c.8269C>T" "r.(?)" "p.(Pro2757Ser)" "" "0000678376" "00020998" "30" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Ser333Asn)" "" "0000964982" "00020998" "90" "5699" "0" "5700" "0" "c.5699_5700del" "r.(?)" "p.(Arg1900AsnfsTer22)" "" "0000978182" "00020998" "30" "2843" "0" "2843" "0" "c.2843C>G" "r.(?)" "p.(Thr948Ser)" "" "0000978183" "00020998" "50" "2012" "0" "2012" "0" "c.2012G>A" "r.(?)" "p.(Ser671Asn)" "" "0001014440" "00020998" "50" "8074" "0" "8074" "0" "c.8074G>A" "r.(?)" "p.(Gly2692Arg)" "" "0001014441" "00020998" "90" "5725" "0" "5728" "0" "c.5725_5728del" "r.(?)" "p.(Ser1909LysfsTer11)" "" "0001036936" "00020998" "90" "7935" "0" "7935" "0" "c.7935T>A" "r.(?)" "p.(Tyr2645*)" "" "0001036937" "00020998" "30" "7711" "0" "7711" "0" "c.7711C>G" "r.(?)" "p.(Leu2571Val)" "" "0001036938" "00020998" "30" "6148" "0" "6148" "0" "c.6148G>A" "r.(?)" "p.(Glu2050Lys)" "" "0001036939" "00020998" "30" "3918" "0" "3918" "0" "c.3918G>C" "r.(?)" "p.(Glu1306Asp)" "" "0001036940" "00020998" "30" "3590" "0" "3590" "0" "c.3590C>G" "r.(?)" "p.(Ser1197Cys)" "" "0001036941" "00020998" "50" "-10967" "0" "-10967" "0" "c.-10967A>C" "r.(?)" "p.(=)" "" "0001046158" "00020998" "90" "2887" "0" "2887" "0" "c.2887C>T" "r.(?)" "p.(Arg963*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000262312" "0000592606"