### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBA1C) # 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}}" "TUBA1C" "tubulin, alpha 1c" "12" "q13.12" "unknown" "NC_000012.11" "UD_132319619153" "" "https://www.LOVD.nl/TUBA1C" "" "1" "20768" "84790" "621161" "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" "2026-04-02 13:42:25" "00006" "2026-04-02 13:52:59" ## 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}}" "00022119" "TUBA1C" "tubulin, alpha 1c" "001" "NM_032704.3" "" "NP_116093.1" "" "" "" "-100" "1453" "1350" "49658865" "49667113" "" "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}}" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "07254" "OZEMA24" "oocyte/zygote/embryo maturation arrest, type 24" "AR" "621232" "" "" "" "00006" "2026-04-02 13:41:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TUBA1C" "05370" "TUBA1C" "07254" ## 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}}" "00475132" "" "" "" "1" "" "00006" "{PMID:Hu 2024:39209701}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "China" "" "0" "" "" "" "Pat1" "00475133" "" "" "" "1" "" "00006" "{PMID:Hu 2024:39209701}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "China" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00475132" "05370" "00475133" "05370" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05370, 07254 ## Count = 2 "{{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}}" "0000359846" "05370" "00475132" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., recurrent preimplantation embryo developmental arrest" "" "" "" "" "" "" "" "OZEMA24" "recurrent preimplantation embryo developmental arrest" "0000359847" "05370" "00475133" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., recurrent preimplantation embryo developmental arrest" "" "" "" "" "" "" "" "OZEMA24" "recurrent preimplantation embryo developmental arrest" ## 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}}" "0000476815" "00475132" "1" "00006" "00006" "2026-04-02 13:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476816" "00475133" "1" "00006" "00006" "2026-04-02 13:52:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "0000614206" "0" "30" "12" "49658970" "49658970" "subst" "0.00790128" "01804" "TUBA1C_000001" "g.49658970G>A" "" "" "" "TUBA1C(NM_032704.3):c.3+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49265187G>A" "" "likely benign" "" "0000805785" "0" "50" "12" "49621950" "49621950" "subst" "8.10097E-6" "01943" "TUBA1C_000002" "g.49621950G>A" "" "" "" "TUBA1C(NM_001303115.1):c.-336+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001071845" "0" "70" "12" "49666732" "49666732" "subst" "4.06065E-6" "00006" "TUBA1C_000003" "g.49666732C>T" "" "{PMID:Hu 2024:39209701}" "" "" "" "Germline" "" "" "0" "" "" "g.49272949C>T" "" "likely pathogenic (recessive)" "" "0001071846" "0" "70" "12" "49666990" "49666990" "del" "0" "00006" "TUBA1C_000004" "g.49666990del" "" "{PMID:Hu 2024:39209701}" "" "" "" "Germline" "" "" "0" "" "" "g.49273207del" "" "likely pathogenic (recessive)" "" ## 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 TUBA1C ## 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}}" "0000614206" "00022119" "30" "3" "3" "3" "3" "c.3+3G>A" "r.spl?" "p.?" "" "0000805785" "00022119" "50" "-37015" "0" "-37015" "0" "c.-37015G>A" "r.(?)" "p.(=)" "" "0001071845" "00022119" "70" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Gln358Ter)" "" "0001071846" "00022119" "70" "1330" "0" "1330" "0" "c.1330del" "r.(?)" "p.(Asp444MetfsTer?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000476815" "0001071845" "0000476816" "0001071846"