### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TTC29) # 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}}" "TTC29" "tetratricopeptide repeat domain 29" "4" "q31.23" "unknown" "NC_000004.11" "UD_136019486702" "" "https://www.LOVD.nl/TTC29" "" "1" "29936" "83894" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TTC29_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-07 15:29:56" "00000" "2025-11-01 13:22:20" ## 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}}" "00022037" "TTC29" "tetratricopeptide repeat domain 29" "001" "NM_031956.2" "" "NP_114162.2" "" "" "" "-227" "1559" "1428" "147867034" "147628179" "" "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}}" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "06645" "SPGF42" "Spermatogenic failure 42" "AR" "618745" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TTC29" "06645" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00269842" "" "" "" "1" "" "00006" "{PMID:Liu 2019:31735294}" "4-generation family, 1 affected (M), unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "FamA002" "00269843" "" "" "" "1" "" "00006" "{PMID:Liu 2019:31735294}" "4-generation family, 1 affected (M), unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "FamA038" "00269844" "" "" "" "1" "" "00006" "{PMID:Liu 2019:31735294}" "2-generation family, 1 affected (M), unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "FamS003" "00269845" "" "" "" "1" "" "00006" "{PMID:Lores 2019:31735292}" "" "M" "" "" "" "0" "" "" "" "Pat1" "00269846" "" "" "" "1" "" "00006" "{PMID:Lores 2019:31735292}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00269847" "" "" "" "1" "" "00006" "{PMID:Lores 2019:31735292}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00269848" "" "" "" "1" "" "00006" "{PMID:Lores 2019:31735292}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00269849" "" "" "" "1" "" "00006" "{PMID:Lores 2019:31735292}" "" "M" "" "" "" "0" "" "" "" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00269842" "05562" "00269843" "05562" "00269844" "05562" "00269845" "05562" "00269846" "05562" "00269847" "05562" "00269848" "05562" "00269849" "05562" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05562, 06645 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000207635" "05562" "00269842" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" "0000207636" "05562" "00269843" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" "0000207637" "05562" "00269844" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" "0000207638" "05562" "00269845" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" "0000207639" "05562" "00269846" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" "0000207640" "05562" "00269847" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" "0000207641" "05562" "00269848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" "0000207642" "05562" "00269849" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "SPGF" "male infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000270994" "00269842" "1" "00006" "00006" "2019-12-07 15:52:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270995" "00269843" "1" "00006" "00006" "2019-12-07 15:52:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270996" "00269844" "1" "00006" "00006" "2019-12-07 15:52:40" "00006" "2019-12-07 15:56:21" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000270997" "00269845" "1" "00006" "00006" "2019-12-07 15:52:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270998" "00269846" "1" "00006" "00006" "2019-12-07 15:52:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270999" "00269847" "1" "00006" "00006" "2019-12-07 15:52:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271000" "00269848" "1" "00006" "00006" "2019-12-07 15:52:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271001" "00269849" "1" "00006" "00006" "2019-12-07 15:52:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000270994" "TTC29" "0000270995" "TTC29" "0000270996" "TTC29" "0000270997" "TTC29" "0000270998" "TTC29" "0000270999" "TTC29" "0000271000" "TTC29" "0000271001" "TTC29" ## 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 = 12 "{{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}}" "0000624830" "3" "90" "11" "147724832" "147724832" "subst" "0" "00006" "TTC29_000002" "g.147724832G>C" "" "{PMID:Liu 2019:31735294}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.146803680G>C" "" "pathogenic (recessive)" "" "0000624831" "3" "90" "4" "147824859" "147824872" "del" "0" "00006" "TTC29_000004" "g.147824859_147824872del" "" "{PMID:Liu 2019:31735294}" "" "" "" "Germline" "" "" "0" "" "" "g.146903707_146903720del" "" "pathogenic (recessive)" "" "0000624832" "21" "90" "11" "147754957" "147754957" "subst" "0" "00006" "TTC29_000003" "g.147754957C>A" "" "{PMID:Liu 2019:31735294}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.146833805C>A" "" "pathogenic (recessive)" "" "0000624833" "3" "90" "11" "147858745" "147858745" "subst" "0" "00006" "TTC29_000005" "g.147858745C>T" "" "{PMID:Lores 2019:31735292}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.146937593C>T" "" "pathogenic (recessive)" "" "0000624834" "3" "90" "11" "147858745" "147858745" "subst" "0" "00006" "TTC29_000005" "g.147858745C>T" "" "{PMID:Lores 2019:31735292}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.146937593C>T" "" "pathogenic (recessive)" "" "0000624835" "3" "90" "11" "147858745" "147858745" "subst" "0" "00006" "TTC29_000005" "g.147858745C>T" "" "{PMID:Lores 2019:31735292}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.146937593C>T" "" "pathogenic (recessive)" "" "0000624836" "3" "90" "4" "147830244" "147830248" "del" "8.14545E-6" "00006" "TTC29_000007" "g.147830244_147830248del" "" "{PMID:Lores 2019:31735292}" "" "333_334delGGAGG" "" "Germline" "" "" "0" "" "" "g.146909092_146909096del" "" "pathogenic (recessive)" "" "0000624837" "3" "90" "11" "147795917" "147795917" "subst" "0" "00006" "TTC29_000006" "g.147795917G>T" "" "{PMID:Lores 2019:31735292}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.146874765G>T" "" "pathogenic (recessive)" "" "0000624838" "11" "90" "11" "147724832" "147724832" "subst" "0" "00006" "TTC29_000002" "g.147724832G>C" "" "{PMID:Liu 2019:31735294}" "" "" "Variant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.146803680G>C" "" "pathogenic (recessive)" "" "0000886144" "0" "70" "4" "147788736" "147788736" "subst" "0.000169633" "02327" "TTC29_000008" "g.147788736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034362" "0" "50" "4" "147830358" "147830358" "subst" "7.34268E-5" "01804" "TTC29_000009" "g.147830358G>A" "" "" "" "TTC29(NM_031956.4):c.220C>T (p.(Arg74*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051853" "0" "50" "4" "147795956" "147795956" "subst" "0" "01804" "TTC29_000010" "g.147795956G>C" "" "" "" "TTC29(NM_031956.4):c.711C>G (p.(Tyr237*))" "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 TTC29 ## Count = 12 "{{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}}" "0000624830" "00022037" "90" "1107" "0" "1107" "0" "c.1107C>G" "r.(?)" "p.(Tyr369*)" "" "0000624831" "00022037" "90" "412" "0" "425" "0" "c.412_425del" "r.(?)" "p.(Asp138Leufs*10)" "" "0000624832" "00022037" "90" "977" "1" "977" "1" "c.977+1G>T" "r.886_977del" "p.Val296Profs*9" "" "0000624833" "00022037" "90" "176" "1" "176" "1" "c.176+1G>A" "r.176_177ins[a;176+2_176+19]" "p.Tyr60*" "" "0000624834" "00022037" "90" "176" "1" "176" "1" "c.176+1G>A" "r.176_177ins[a;176+2_176+19]" "p.Tyr60*" "" "0000624835" "00022037" "90" "176" "1" "176" "1" "c.176+1G>A" "r.176_177ins[a;176+2_176+19]" "p.Tyr60*" "" "0000624836" "00022037" "90" "330" "0" "334" "0" "c.330_334del" "r.(?)" "p.(Glu111Alafs*3)" "" "0000624837" "00022037" "90" "750" "0" "750" "0" "c.750C>A" "r.(?)" "p.(Tyr250*)" "" "0000624838" "00022037" "90" "1107" "0" "1107" "0" "c.1107C>G" "r.1107c>g" "p.Tyr369*" "" "0000886144" "00022037" "70" "800" "-1" "800" "-1" "c.800-1G>A" "r.spl?" "p.?" "" "0001034362" "00022037" "50" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74*)" "" "0001051853" "00022037" "50" "711" "0" "711" "0" "c.711C>G" "r.(?)" "p.(Tyr237*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000270994" "0000624830" "0000270995" "0000624831" "0000270996" "0000624832" "0000270996" "0000624838" "0000270997" "0000624833" "0000270998" "0000624834" "0000270999" "0000624835" "0000271000" "0000624836" "0000271001" "0000624837"