### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP2D6) # 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}}" "CYP2D6" "cytochrome P450 family 2 subfamily D member 6" "22" "q13.2" "unknown" "LRG_303" "UD_144415824551" "" "" "" "1" "2625" "1565" "124030" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-16 17:01:40" "" "" "00005" "2021-09-12 15:02:03" ## 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}}" "00000038" "CYP2D6" "transcript variant 1" "002" "NM_000106.6" "" "NP_000097.3" "" "" "" "-19" "1569" "1494" "42130810" "42126499" "00001" "2020-11-16 17:02:09" "" "" ## 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}}" "00021" "-" "Breast cancer" "AD;SMu" "114480" "breast" "" "" "00001" "2020-11-05 12:11:17" "00001" "2021-04-07 14:45:56" "00083" "-" "pharmacogenetics" "" "" "" "" "" "00001" "2021-03-09 15:58:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CYP2D6" "00021" "CYP2D6" "00083" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000151" "" "" "" "1" "" "00002" "{PMID:Fee Wai Chin et al. (2016):26510986}" "" "" "Malaysia" "" "" "" "00000501" "" "" "" "1" "" "00004" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "" "" "Malaysia" "Malay" "" "" "00000502" "" "" "" "1" "" "00004" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "" "" "Malaysia" "Chinese" "" "" "00000503" "" "" "" "1" "" "00004" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "" "" "Malaysia" "Indian" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000151" "00021" "00000501" "00083" "00000502" "00083" "00000503" "00083" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00021, 00083 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000064" "00021" "00000151" "00002" "" "" ## 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}}" "0000000166" "00000151" "1" "00002" "00002" "2020-11-17 10:12:55" "" "" "PCRm" "DNA" "0000000547" "00000501" "1" "00004" "00004" "2021-03-09 16:09:48" "" "" "?" "DNA" "0000000548" "00000502" "1" "00004" "00004" "2021-03-09 16:59:28" "" "" "?" "DNA" "0000000549" "00000503" "1" "00004" "00004" "2021-03-09 17:01:46" "" "" "?" "DNA" "0000000550" "00000503" "1" "00004" "00004" "2021-03-09 17:13:03" "" "" "?" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000000166" "CYP2D6" "0000000547" "CYP2D6" "0000000548" "CYP2D6" "0000000549" "CYP2D6" "0000000550" "CYP2D6" ## 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 = 17 "{{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}}" "0000000774" "0" "00" "22" "42130692" "42130692" "subst" "0" "00002" "CYP2D6_000001" "g.42130692G>A" "3/7" "{PMID:Fee Wai Chin et al. (2016):26510986}, {dbSNP:rs1065852}" "" "" "rs1065852" "0000000775" "0" "90" "22" "42129180" "42129180" "subst" "0" "00002" "CYP2D6_000002" "g.42129180A>T" "1/7" "{PMID:Fee Wai Chin et al. (2016):26510986}, {dbSNP:rs1135822}, {ClinVar:829664}" "1611T>A" "" "rs1135822" "0000000776" "0" "90" "22" "42128945" "42128945" "subst" "0" "00002" "CYP2D6_000003" "g.42128945C>T" "1/7" "{PMID:Fee Wai Chin et al. (2016):26510986}, {dbSNP:rs3892097}, {OMIM:124030:0001}, {ClinVar:16889}" "1846G>A" "" "rs3892097" "0000000777" "0" "10" "22" "42127941" "42127941" "subst" "0" "00002" "CYP2D6_000004" "g.42127941G>A" "1/7" "{PMID:Fee Wai Chin et al. (2016):26510986}, {dbSNP:rs16947}, {OMIM:124030:0007}, {ClinVar:242771}" "2850C>T" "" "rs16947" "0000000778" "0" "90" "22" "42126746" "42126746" "subst" "0" "00002" "CYP2D6_000005" "g.42126746C>T" "1/7" "{PMID:Fee Wai Chin et al. (2016):26510986}, {dbSNP:rs532668079}" "4045G>A" "" "rs532668079" "0000000779" "0" "10" "22" "42126611" "42126611" "subst" "0" "00002" "CYP2D6_000006" "g.42126611C>G" "5/7" "{PMID:Fee Wai Chin et al. (2016):26510986}, {dbSNP:rs1135840}, {OMIM:124030:0007}, {ClinVar:242701}" "4180G>C" "" "rs1135840" "0000002286" "0" "90" "22" "42127941" "42127941" "subst" "0" "00004" "CYP2D6_000004" "g.42127941G>A" "13/104" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "R296C" "" "rs16947" "0000002287" "0" "90" "22" "4180" "4180" "subst" "0" "00004" "CYP2D6_000006" "g.4180G>C" "13/104" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "S486T" "" "rs1135840" "0000002288" "0" "90" "22" "42130692" "42130692" "subst" "0" "00004" "CYP2D6_000001" "g.42130692G>A" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "P34S" "" "rs1065852" "0000002289" "0" "90" "22" "42128945" "42128945" "subst" "0" "00004" "CYP2D6_000003" "g.42128945C>T" "9/138" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "" "" "rs3892097" "0000002290" "0" "90" "22" "42129033" "42129033" "subst" "0" "00004" "CYP2D6_000007" "g.42129033C>G" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "G169R" "" "rs5030865" "0000002291" "0" "90" "22" "42129180" "42129180" "subst" "0" "00004" "CYP2D6_000002" "g.42129180A>T" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "F120I" "" "rs1135822" "0000002292" "0" "90" "22" "42129180" "42129180" "subst" "0" "00004" "CYP2D6_000002" "g.42129180A>T" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "F120I" "" "rs1135822" "0000002293" "0" "90" "22" "42129180" "42129180" "subst" "0" "00004" "CYP2D6_000002" "g.42129180A>T" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "" "" "rs1135822" "0000002294" "0" "90" "22" "42130692" "42130692" "subst" "0" "00004" "CYP2D6_000001" "g.42130692G>A" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "P34S" "" "rs1065852" "0000002295" "0" "90" "22" "42130692" "42130692" "subst" "0" "00004" "CYP2D6_000001" "g.42130692G>A" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "P34S" "" "rs1065852" "0000002297" "0" "90" "22" "42129033" "42129033" "subst" "0" "00004" "CYP2D6_000007" "g.42129033C>G" "" "{PMID:Palden Wangyel Dorji et al.(2019):30980418}" "" "" "rs5030865" ## 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 CYP2D6 ## Count = 17 "{{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}}" "0000000774" "00000038" "00" "100" "0" "100" "0" "c.100C>T" "1" "p.(Pro34Ser)" "r.(?)" "" "" "{ClinVar:16893}" "0000000775" "00000038" "90" "358" "0" "358" "0" "c.358T>A" "3" "p.(Phe120Ile)" "r.(?)" "" "" "{ClinVar:829664}" "0000000776" "00000038" "90" "506" "-1" "506" "-1" "c.506-1G>A" "3" "p.?" "r.spl?" "" "" "{ClinVar:16889}" "0000000777" "00000038" "10" "886" "0" "886" "0" "c.886C>T" "6" "p.(Arg296Cys)" "r.(?)" "" "" "{ClinVar:242771}" "0000000778" "00000038" "90" "1322" "0" "1322" "0" "c.1322G>A" "9" "p.(Arg441His)" "r.(?)" "" "" "" "0000000779" "00000038" "10" "1457" "0" "1457" "0" "c.1457G>C" "9" "p.(Ser486Thr)" "r.(?)" "" "" "{ClinVar:242701}" "0000002286" "00000038" "90" "886" "0" "886" "0" "c.886C>T" "" "p.(Arg296Cys)" "r.(?)" "" "" "Benign" "0000002287" "00000038" "90" "1457" "0" "1457" "0" "c.1457G>C" "" "p.(Ser486Thr)" "r.(?)" "" "" "Benign, other" "0000002288" "00000038" "90" "100" "0" "100" "0" "c.100C>T" "" "p.(Pro34Ser)" "r.(?)" "" "" "Likely benign, drug response, other" "0000002289" "00000038" "90" "1846" "0" "1846" "0" "c.1846G>A" "" "p.(=)" "r.(=)" "" "" "drug response" "0000002290" "00000038" "90" "1758" "0" "1758" "0" "c.1758G>A" "" "p.(=)" "r.(=)" "" "" "-" "0000002291" "00000038" "90" "358" "0" "358" "0" "c.358T>A" "" "p.(Phe120Ile)" "r.(?)" "" "" "-" "0000002292" "00000038" "90" "358" "0" "358" "0" "c.358T>A" "" "p.(Phe120Ile)" "r.(?)" "" "" "" "0000002293" "00000038" "90" "358" "0" "358" "0" "c.358T>A" "" "p.(Phe120Ile)" "r.(?)" "" "" "" "0000002294" "00000038" "90" "100" "0" "100" "0" "c.100C>T" "" "p.(Pro34Ser)" "r.(?)" "" "" "Likely benign, drug response, other" "0000002295" "00000038" "90" "100" "0" "100" "0" "c.100C>T" "" "p.(Pro34Ser)" "r.(?)" "" "" "Likely benign, drug response, other" "0000002297" "00000038" "90" "1758" "0" "1758" "0" "c.1758G>A" "" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000166" "0000000774" "0000000166" "0000000775" "0000000166" "0000000776" "0000000166" "0000000777" "0000000166" "0000000778" "0000000166" "0000000779" "0000000547" "0000002286" "0000000547" "0000002287" "0000000547" "0000002288" "0000000547" "0000002289" "0000000547" "0000002290" "0000000547" "0000002291" "0000000548" "0000002292" "0000000548" "0000002294" "0000000548" "0000002297" "0000000549" "0000002293" "0000000550" "0000002295"