### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACPT)
# 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}}"
"ACPT" "acid phosphatase, testicular" "19" "q13.33" "unknown" "NC_000019.9" "UD_136085414083" "" "https://www.LOVD.nl/ACP4" "" "1" "14376" "93650" "606362" "1" "1" "1" "1" "NOTE: gene name changed from ACPT to ACP4\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from ACPT to ACP4" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 13:19:16" "00000" "2022-05-09 15:47:41"
## 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}}"
"00001990" "ACPT" "acid phosphatase, testicular" "001" "NM_033068.2" "" "NP_149059.1" "" "" "" "1" "1347" "1281" "51293672" "51298481" "" "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}}"
"06416" "AI1J" "Amelogenesis imperfecta, type IJ" "AR" "617297" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"ACPT" "06416"
## Individuals ## Do not remove or alter this header ##
## Count = 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 06416
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## 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 = 5
"{{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}}"
"0000261793" "0" "50" "19" "51295022" "51295022" "subst" "1.6507E-5" "01943" "ACPT_000001" "g.51295022C>T" "" "" "" "ACPT(NM_033068.2):c.413C>T (p.P138L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50791765C>T" "" "VUS" ""
"0000568278" "0" "50" "19" "51295057" "51295057" "subst" "4.52129E-5" "01943" "ACPT_000002" "g.51295057A>G" "" "" "" "ACPT(NM_033068.2):c.448A>G (p.K150E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50791800A>G" "" "VUS" ""
"0000568279" "0" "50" "19" "51298117" "51298117" "subst" "0.000382786" "01943" "ACPT_000003" "g.51298117C>T" "" "" "" "ACPT(NM_033068.2):c.1061C>T (p.P354L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50794860C>T" "" "VUS" ""
"0000855680" "0" "50" "19" "51294994" "51294994" "subst" "0" "01943" "ACPT_000004" "g.51294994C>T" "" "" "" "ACP4(NM_033068.2):c.385C>T (p.P129S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855681" "0" "30" "19" "51295528" "51295528" "subst" "4.47894E-5" "01943" "ACPT_000005" "g.51295528G>A" "" "" "" "ACP4(NM_033068.2):c.579G>A (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 ACPT
## Count = 5
"{{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}}"
"0000261793" "00001990" "50" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Pro138Leu)" ""
"0000568278" "00001990" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Lys150Glu)" ""
"0000568279" "00001990" "50" "1061" "0" "1061" "0" "c.1061C>T" "r.(?)" "p.(Pro354Leu)" ""
"0000855680" "00001990" "50" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Pro129Ser)" ""
"0000855681" "00001990" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0