### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABL1) # 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}}" "ABL1" "ABL proto-oncogene 1, non-receptor tyrosine kinase" "9" "q34.12" "unknown" "NG_012034.1" "UD_144407196475" "" "" "" "1" "76" "25" "189980" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-02-08 12:35:19" "" "" "00006" "2021-09-09 11:05:11" ## 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}}" "00000114" "ABL1" "transcript variant a" "002" "NM_005157.5" "" "NP_005148.2" "" "" "" "-192" "5385" "3393" "130835255" "130887675" "00001" "2021-02-08 12:35:19" "" "" ## 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}}" "00063" "CML" "chronic myeloid leukemia" "" "" "" "" "" "00001" "2021-02-08 12:33:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ABL1" "00063" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000401" "" "" "" "1" "" "00002" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}" "" "" "Malaysia" "" "" "" "00000402" "" "" "" "1" "" "00002" "{PMID:Yuslina Mat Yusoff et al. (2018):30583336}" "" "" "Malaysia" "Malay" "" "" "00000403" "" "" "" "1" "" "00002" "{PMID:Yuslina Mat Yusoff et al. (2018):30583336}" "" "" "Malaysia" "Chinese" "" "" "00000404" "" "" "" "1" "" "00002" "{PMID:Yuslina Mat Yusoff et al. (2018):30583336}" "" "" "Malaysia" "Indian" "" "" "00000781" "" "" "" "1" "" "00004" "{PMID:N S Jamali et al.(2021):33903307}" "" "" "Malaysia" "" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000401" "00063" "00000402" "00063" "00000403" "00063" "00000404" "00063" "00000781" "00063" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00063 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000415" "00000401" "1" "00002" "00002" "2021-02-08 12:55:19" "" "" "DHPLC;SEQ" "RNA" "0000000416" "00000402" "1" "00002" "00002" "2021-02-08 15:48:58" "" "" "PCR" "DNA" "0000000417" "00000403" "1" "00002" "00002" "2021-02-08 15:54:21" "" "" "PCR" "DNA" "0000000418" "00000404" "1" "00002" "00002" "2021-02-08 15:58:40" "" "" "PCR" "DNA" "0000000875" "00000781" "1" "00004" "00004" "2021-07-13 11:55:56" "" "" "PFGE;RT-PCR;SEQ" "RNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000000415" "ABL1" "0000000416" "ABL1" "0000000417" "ABL1" "0000000418" "ABL1" "0000000875" "ABL1" ## 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 = 15 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001862" "0" "90" "9" "130872896" "130872896" "subst" "0" "00002" "ABL1_000002" "g.130872896C>T" "9/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913459}, {OMIM:189980:0001}, {ClinVar:12624}" "T315I" "" "rs121913459" "0000001863" "0" "90" "9" "130862976" "130862976" "subst" "0" "00002" "ABL1_000003" "g.130862976G>A" "4/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913448}, {ClinVar:376090}" "E255K" "" "rs121913448" "0000001864" "0" "90" "9" "130862962" "130862962" "subst" "0" "00002" "ABL1_000004" "g.130862962G>A" "2/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913453}, {ClinVar:376086}" "G250E" "" "rs121913453" "0000001865" "0" "90" "9" "130873004" "130873004" "subst" "0" "00002" "ABL1_000005" "g.130873004T>C" "2/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913457}, {OMIM:189980:0006}, {ClinVar:12629}" "M351T" "" "rs121913457" "0000001866" "0" "90" "9" "130873028" "130873028" "subst" "0" "00002" "ABL1_000006" "g.130873028T>G" "2/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs1057519775}, {ClinVar:376124}" "F359C" "" "rs1057519775" "0000001867" "0" "90" "9" "130862970" "130862970" "subst" "0" "00002" "ABL1_000007" "g.130862970T>C" "1/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913461}, {OMIM:189980:0004}, {ClinVar:12627}" "Y253H" "" "rs121913461" "0000001868" "0" "90" "9" "130873016" "130873016" "subst" "0" "00002" "ABL1_000008" "g.130873016A>G" "1/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913450}, {ClinVar:376095}" "E355G" "" "rs121913450" "0000001869" "0" "90" "9" "130874969" "130874969" "subst" "0" "00002" "ABL1_000009" "g.130874969A>G" "1/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913454}, {ClinVar:376097}" "H396R" "" "rs121913454" "0000001870" "0" "90" "9" "130872133" "130872133" "subst" "0" "00002" "ABL1_000010" "g.130872133A>G" "1/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}, {dbSNP:rs121913447}" "D276G" "" "rs121913447" "0000001871" "0" "90" "9" "130874971" "130874971" "subst" "0" "00002" "ABL1_000011" "g.130874971G>C" "1/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}" "A397P" "" "rs137852281" "0000001872" "0" "90" "9" "130874941" "130874941" "subst" "0" "00002" "ABL1_000012" "g.130874941T>A" "1/28" "{PMID:Marjanu Hikmah Elias et al. (2014):24456693}" "L387M" "" "rs2669875" "0000001873" "0" "90" "9" "130872896" "130872896" "subst" "0" "00002" "ABL1_000002" "g.130872896C>T" "9/15" "{PMID:Yuslina Mat Yusoff et al. (2018):30583336}, {dbSNP:rs121913459}, {OMIM:189980:0001}, {ClinVar:12624}" "T315I" "" "rs121913459" "0000001874" "0" "90" "9" "130872896" "130872896" "subst" "0" "00002" "ABL1_000002" "g.130872896C>T" "3/15" "{PMID:Yuslina Mat Yusoff et al. (2018):30583336}, {dbSNP:rs121913459}, {OMIM:189980:0001}, {ClinVar:12624}" "T315I" "" "rs121913459" "0000001875" "0" "90" "9" "130872896" "130872896" "subst" "0" "00002" "ABL1_000002" "g.130872896C>T" "2/15" "{PMID:Yuslina Mat Yusoff et al. (2018):30583336}, {dbSNP:rs121913459}, {OMIM:189980:0001}, {ClinVar:12624}" "T315I" "" "rs121913459" "0000003052" "0" "90" "9" "130874969" "130874969" "subst" "0" "00004" "ABL1_000001" "g.130874969A>C" "" "{PMID:N S Jamali et al.(2021):33903307}" "" "" "rs1396443734" ## 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 ABL1 ## Count = 15 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001862" "00000114" "90" "944" "0" "944" "0" "c.944C>T" "" "p.(Thr315Ile)" "r.(?)" "" "" "{ClinVar:12624}" "0000001863" "00000114" "90" "763" "0" "763" "0" "c.763G>A" "" "p.(Glu255Lys)" "r.(?)" "" "" "{ClinVar:376090}" "0000001864" "00000114" "90" "749" "0" "749" "0" "c.749G>A" "" "p.(Gly250Glu)" "r.(?)" "" "" "{ClinVar:376086}" "0000001865" "00000114" "90" "1052" "0" "1052" "0" "c.1052T>C" "" "p.(Met351Thr)" "r.(?)" "" "" "{ClinVar:12629}" "0000001866" "00000114" "90" "1076" "0" "1076" "0" "c.1076T>G" "" "p.(Phe359Cys)" "r.(?)" "" "" "{ClinVar:376124}" "0000001867" "00000114" "90" "757" "0" "757" "0" "c.757T>C" "" "p.(Tyr253His)" "r.(?)" "" "" "{ClinVar:12627}" "0000001868" "00000114" "90" "1064" "0" "1064" "0" "c.1064A>G" "" "p.(Glu355Gly)" "r.(?)" "" "" "{ClinVar:376095}" "0000001869" "00000114" "90" "1187" "0" "1187" "0" "c.1187A>G" "" "p.(His396Arg)" "r.(?)" "" "" "" "0000001870" "00000114" "90" "827" "0" "827" "0" "c.827A>G" "" "p.(Asp276Gly)" "r.(?)" "" "" "" "0000001871" "00000114" "90" "1189" "0" "1189" "0" "c.1189G>C" "" "p.(Ala397Pro)" "r.(?)" "" "" "" "0000001872" "00000114" "90" "1159" "0" "1159" "0" "c.1159T>A" "" "p.(Leu387Met)" "r.(?)" "" "" "" "0000001873" "00000114" "90" "944" "0" "944" "0" "c.944C>T" "" "p.(Thr315Ile)" "r.(?)" "" "" "{ClinVar:12624}" "0000001874" "00000114" "90" "944" "0" "944" "0" "c.944C>T" "" "p.(Thr315Ile)" "r.(?)" "" "" "{ClinVar:12624}" "0000001875" "00000114" "90" "944" "0" "944" "0" "c.944C>T" "" "p.(Thr315Ile)" "r.(?)" "" "" "" "0000003052" "00000114" "90" "1187" "0" "1187" "0" "c.1187A>C" "" "p.(His396Pro)" "r.(?)" "" "missense" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000415" "0000001862" "0000000415" "0000001863" "0000000415" "0000001864" "0000000415" "0000001865" "0000000415" "0000001866" "0000000415" "0000001867" "0000000415" "0000001868" "0000000415" "0000001869" "0000000415" "0000001870" "0000000415" "0000001871" "0000000415" "0000001872" "0000000416" "0000001873" "0000000417" "0000001874" "0000000418" "0000001875" "0000000875" "0000003052"