### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYPN) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "MYPN" "myopalladin" "10" "q22.1" "unknown" "LRG_410" "UD_139784720992" "" "" "" "1" "1" "23246" "84665" "608517" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 18:53:35" "" "" "00000" "2014-04-18 18:53:35" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003228" "MYPN" "transcript variant 1" "004" "NM_032578.3" "" "NP_115967.2" "" "" "" "-292" "5525" "3963" "69869190" "69971774" "00000" "2014-04-18 18:53:35" "" "" "" "" ## 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 = 10 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001896" "0" "99" "10" "69881254" "69881254" "subst" "35" "0.000922651" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-09-04 16:42:50" "MYPN_000010" "g.69881254A>G" "" "{PMID:22286171:22286171}" "" "rs140148105" "subst" "0" "; clinvar;" "6.030" "" "" "" "" "MSCV_0001896" "" "0000001897" "0" "77" "10" "69881832" "69881832" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-11-21 19:56:25" "MYPN_000001" "g.69881832A>G" "" "" "" "rs199476402" "subst" "0" "; clinvar;" "5.740" "" "" "" "" "MSCV_0001897" "" "0000001898" "0" "77" "10" "69902810" "69902810" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:35:35" "MYPN_000002" "g.69902810A>T" "" "" "" "rs199476404" "subst" "0" "; clinvar;" "5.590" "" "" "" "" "MSCV_0001898" "" "0000001899" "0" "77" "10" "69926281" "69926281" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-01-12 21:28:48" "MYPN_000003" "g.69926281G>A" "" "" "" "rs199476409" "subst" "0" "; clinvar;" "3.430" "" "" "" "" "MSCV_0001899" "" "0000001900" "0" "77" "10" "69935159" "69935159" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:35:35" "MYPN_000004" "g.69935159G>A" "" "" "" "rs199476411" "subst" "0" "; clinvar;" "2.930" "" "" "" "" "MSCV_0001900" "" "0000001901" "0" "77" "10" "69948820" "69948820" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-09-19 15:55:19" "MYPN_000005" "g.69948820C>A" "" "" "" "rs199476413" "subst" "0" "; clinvar;" "2.980" "" "" "" "" "MSCV_0001901" "" "0000001902" "0" "99" "10" "69957213" "69957213" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2021-09-13 06:18:06" "MYPN_000006" "g.69957213G>A" "" "{PMID:18006477:18006477}" "" "rs71584501" "subst" "0" "; clinvar;" "5.160" "" "" "" "" "MSCV_0001902" "" "0000001903" "0" "99" "10" "69959174" "69959174" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-01-12 21:30:20" "MYPN_000007" "g.69959174C>A" "" "{PMID:18006477:18006477};{PMID:20801532:20801532};{PMID:22286171:22286171}" "" "rs71534278" "subst" "0" "; clinvar;" "5.380" "" "" "" "" "MSCV_0001903" "" "0000001904" "0" "99" "10" "69959174" "69959174" "subst" "35" "0.00207597" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2018-01-12 21:30:47" "MYPN_000008" "g.69959174C>T" "" "{PMID:18006477:18006477};{PMID:20801532:20801532};{PMID:22286171:22286171}" "" "rs71534278" "subst" "0" "; clinvar;" "5.380" "" "" "" "" "MSCV_0001904" "" "0000001905" "0" "99" "10" "69961675" "69961675" "subst" "51" "0.00030755" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 12:35:35" "MYPN_000009" "g.69961675G>A" "" "{PMID:18006477:18006477}" "" "rs71534280" "subst" "0" "; clinvar;" "5.220" "" "" "" "" "MSCV_0001905" "" ## 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. ## Count = 10 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001896" "00003228" "99" "59" "0" "59" "0" "c.59A>G" "2/20" "p.(Tyr20Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001897" "00003228" "77" "637" "0" "637" "0" "c.637A>G" "2/20" "p.(Ile213Val)" "r.(?)" "benign(0.03)" "" "missense_variant" "" "" "tolerated(0.33)" "0000001898" "00003228" "77" "1016" "0" "1016" "0" "c.1016A>T" "3/20" "p.(Tyr339Phe)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001899" "00003228" "77" "1831" "0" "1831" "0" "c.1831G>A" "10/20" "p.(Ala611Thr)" "r.(?)" "benign(0.007)" "" "missense_variant" "" "" "tolerated(0.65)" "0000001900" "00003228" "77" "2644" "0" "2644" "0" "c.2644G>A" "12/20" "p.(Ala882Thr)" "r.(?)" "benign(0.005)" "" "missense_variant" "" "" "tolerated(0.22)" "0000001901" "00003228" "77" "2862" "0" "2862" "0" "c.2862C>A" "13/20" "p.(Phe954Leu)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001902" "00003228" "99" "3263" "0" "3263" "0" "c.3263G>A" "16/20" "p.(Arg1088His)" "r.(?)" "possibly_damaging(0.861)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001903" "00003228" "99" "3335" "0" "3335" "0" "c.3335C>A" "17/20" "p.(Pro1112His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001904" "00003228" "99" "3335" "0" "3335" "0" "c.3335C>T" "17/20" "p.(Pro1112Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001905" "00003228" "99" "3583" "0" "3583" "0" "c.3583G>A" "18/20" "p.(Val1195Met)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0