### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANKLE1) # 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}}" "ANKLE1" "ankyrin repeat and LEM domain containing 1" "19" "p13.11" "unknown" "NC_000019.9" "UD_136018822011" "" "https://www.LOVD.nl/ANKLE1" "" "1" "26812" "126549" "619348" "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/ANKLE1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-16 09:47:10" "00000" "2025-05-05 21:14:00" ## 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}}" "00025758" "ANKLE1" "transcript variant 1" "001" "NM_152363.5" "" "NP_689576.5" "" "" "" "-114" "3104" "2010" "17392454" "17398455" "00006" "2022-11-16 09:47:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 ## ## 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 = 21 "{{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}}" "0000262473" "0" "10" "19" "17397499" "17397500" "del" "0" "01943" "ANKLE1_000006" "g.17397499_17397500del" "" "" "" "ANKLE1(NM_001278444.2):c.1769_1770delGT (p.C590Ffs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286690_17286691del" "" "benign" "" "0000262474" "0" "10" "19" "17397501" "17397502" "del" "0" "01943" "ANKLE1_000015" "g.17397501_17397502del" "" "" "" "ANKLE1(NM_001278444.2):c.1771_1772delTT (p.L591Vfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286692_17286693del" "" "benign" "" "0000262475" "0" "10" "19" "17397501" "17397508" "del" "0" "01943" "ANKLE1_000013" "g.17397501_17397508del" "" "" "" "ANKLE1(NM_001278444.2):c.1771_1778delTTGTGTGT (p.L591Vfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286692_17286699del" "" "benign" "" "0000262476" "0" "10" "19" "17397501" "17397514" "del" "0" "01943" "ANKLE1_000011" "g.17397501_17397514del" "" "" "" "ANKLE1(NM_001278443.1):c.*127_*140del (p.(=)), ANKLE1(NM_001278444.2):c.1771_1784delTTGTGTGTGTGTGT (p.L591Vfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286692_17286705del" "" "benign" "" "0000262477" "0" "10" "19" "17397501" "17397516" "del" "0" "01943" "ANKLE1_000010" "g.17397501_17397516del" "" "" "" "ANKLE1(NM_001278444.2):c.1771_1786delTTGTGTGTGTGTGTGT (p.L591Vfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286692_17286707del" "" "benign" "" "0000326325" "0" "30" "19" "17389834" "17389834" "subst" "0" "01804" "BABAM1_000002" "g.17389834A>G" "" "" "" "BABAM1(NM_001033549.1):c.967A>G (p.(Ile323Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17279025A>G" "" "likely benign" "" "0000326326" "0" "50" "19" "17392671" "17392671" "subst" "0.000839033" "01804" "ANKLE1_000001" "g.17392671C>T" "" "" "" "ANKLE1(NM_001278443.1):c.104C>T (p.(Pro35Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17281862C>T" "" "VUS" "" "0000326331" "0" "30" "19" "17397497" "17397500" "del" "0" "01804" "ANKLE1_000007" "g.17397497_17397500del" "" "" "" "ANKLE1(NM_001278443.1):c.*96_*99del (p.(=)), ANKLE1(NM_001278444.2):c.1767_1770delGTGT (p.L591Vfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286688_17286691del" "" "likely benign" "" "0000326334" "0" "50" "19" "17397501" "17397514" "del" "0" "01804" "ANKLE1_000011" "g.17397501_17397514del" "" "" "" "ANKLE1(NM_001278443.1):c.*127_*140del (p.(=)), ANKLE1(NM_001278444.2):c.1771_1784delTTGTGTGTGTGTGT (p.L591Vfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286692_17286705del" "" "VUS" "" "0000326336" "0" "50" "19" "17397501" "17397506" "del" "0" "01804" "ANKLE1_000014" "g.17397501_17397506del" "" "" "" "ANKLE1(NM_001278443.1):c.*135_*140del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17286692_17286697del" "" "VUS" "" "0000566529" "0" "50" "19" "17393545" "17393545" "subst" "2.14182E-5" "01804" "BABAM1_000005" "g.17393545G>T" "" "" "" "ANKLE1(NM_001278443.1):c.425G>T (p.(Gly142Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17282736G>T" "" "VUS" "" "0000566532" "0" "30" "19" "17396577" "17396577" "subst" "0.00544013" "01804" "ANKLE1_000027" "g.17396577G>A" "" "" "" "ANKLE1(NM_001278443.1):c.1675G>A (p.(Val559Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17285768G>A" "" "likely benign" "" "0000566533" "0" "30" "19" "17397353" "17397353" "subst" "0.00301513" "01804" "ANKLE1_000028" "g.17397353C>G" "" "" "" "ANKLE1(NM_001278443.1):c.1891C>G (p.(Arg631Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17286544C>G" "" "likely benign" "" "0000566539" "0" "30" "19" "17397489" "17397500" "del" "0" "01804" "ANKLE1_000021" "g.17397489_17397500del" "" "" "" "ANKLE1(NM_001278443.1):c.*96_*107del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17286680_17286691del" "" "likely benign" "" "0000566543" "0" "30" "19" "17397495" "17397500" "del" "0" "01804" "ANKLE1_000025" "g.17397495_17397500del" "" "" "" "ANKLE1(NM_001278443.1):c.*96_*101del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17286686_17286691del" "" "likely benign" "" "0000566544" "0" "10" "19" "17397497" "17397500" "del" "0" "01943" "ANKLE1_000007" "g.17397497_17397500del" "" "" "" "ANKLE1(NM_001278443.1):c.*96_*99del (p.(=)), ANKLE1(NM_001278444.2):c.1767_1770delGTGT (p.L591Vfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17286688_17286691del" "" "benign" "" "0000983296" "0" "30" "19" "17394633" "17394633" "subst" "0.00137012" "01804" "BABAM1_000009" "g.17394633C>T" "" "" "" "ANKLE1(NM_152363.6):c.1060C>T (p.(Arg354Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983297" "0" "30" "19" "17395038" "17395038" "subst" "0.00425537" "01804" "BABAM1_000010" "g.17395038G>A" "" "" "" "ANKLE1(NM_152363.6):c.1339G>A (p.(Val447Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983298" "0" "30" "19" "17397381" "17397381" "subst" "0.00377245" "01804" "ANKLE1_000029" "g.17397381C>A" "" "" "" "ANKLE1(NM_001278444.2):c.1651C>A (p.(Pro551Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983299" "0" "30" "19" "17397501" "17397518" "del" "0" "01804" "ANKLE1_000030" "g.17397501_17397518del" "" "" "" "ANKLE1(NM_001278444.2):c.1771_1788del (p.(Leu591_Cys596del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042766" "0" "30" "19" "17394394" "17394394" "subst" "0.000101948" "01804" "BABAM1_000011" "g.17394394G>A" "" "" "" "ANKLE1(NM_152363.6):c.821G>A (p.(Arg274His))" "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 ANKLE1 ## Count = 21 "{{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}}" "0000262473" "00025758" "10" "2148" "0" "2149" "0" "c.*138_*139del" "r.(=)" "p.(=)" "" "0000262474" "00025758" "10" "2150" "0" "2151" "0" "c.*140_*141del" "r.(=)" "p.(=)" "" "0000262475" "00025758" "10" "2150" "0" "2157" "0" "c.*140_*147del" "r.(=)" "p.(=)" "" "0000262476" "00025758" "10" "2150" "0" "2163" "0" "c.*140_*153del" "r.(=)" "p.(=)" "" "0000262477" "00025758" "10" "2150" "0" "2165" "0" "c.*140_*155del" "r.(=)" "p.(=)" "" "0000326325" "00025758" "30" "-2734" "0" "-2734" "0" "c.-2734A>G" "r.(?)" "p.(=)" "" "0000326326" "00025758" "50" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Pro35Leu)" "" "0000326331" "00025758" "30" "2146" "0" "2149" "0" "c.*136_*139del" "r.(=)" "p.(=)" "" "0000326334" "00025758" "50" "2150" "0" "2163" "0" "c.*140_*153del" "r.(=)" "p.(=)" "" "0000326336" "00025758" "50" "2150" "0" "2155" "0" "c.*140_*145del" "r.(=)" "p.(=)" "" "0000566529" "00025758" "50" "458" "0" "458" "0" "c.458G>T" "r.(?)" "p.(Gly153Val)" "" "0000566532" "00025758" "30" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Val596Met)" "" "0000566533" "00025758" "30" "2002" "0" "2002" "0" "c.2002C>G" "r.(?)" "p.(Arg668Gly)" "" "0000566539" "00025758" "30" "2138" "0" "2149" "0" "c.*128_*139del" "r.(=)" "p.(=)" "" "0000566543" "00025758" "30" "2144" "0" "2149" "0" "c.*134_*139del" "r.(=)" "p.(=)" "" "0000566544" "00025758" "10" "2146" "0" "2149" "0" "c.*136_*139del" "r.(=)" "p.(=)" "" "0000983296" "00025758" "30" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000983297" "00025758" "30" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Val501Met)" "" "0000983298" "00025758" "30" "2030" "0" "2030" "0" "c.*20C>A" "r.(=)" "p.(=)" "" "0000983299" "00025758" "30" "2150" "0" "2167" "0" "c.*140_*157del" "r.(=)" "p.(=)" "" "0001042766" "00025758" "30" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0