### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NIPA2) # 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}}" "NIPA2" "non imprinted in Prader-Willi/Angelman syndrome 2" "15" "q11.2" "unknown" "NG_021303.1" "UD_132118282218" "" "https://www.LOVD.nl/NIPA2" "" "1" "17044" "81614" "608146" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NIPA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-06-25 00:00:00" "00006" "2019-03-02 21:24:27" "00000" "2024-08-28 13:16:32" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000240" "NIPA2" "transcript variant 5" "005" "NM_001184889.1" "" "NP_001171818.1" "" "" "" "-857" "2620" "1083" "23034427" "23004684" "00008" "2012-06-25 12:45:27" "" "" "00025386" "NIPA2" "transcript variant 1" "004" "NM_030922.6" "" "NP_112184.4" "" "" "" "-632" "2620" "1083" "23034427" "23004684" "00006" "2019-03-02 21:22:30" "" "" ## 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}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00183455" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "" "Italy" "" "0" "" "" "" "Patient XVII" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00183455" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000171335" "00244" "00183455" "00006" "Unknown" "" "onset congenital, congenital arthrogryposis, no muscle weakness, normal elevated CPK (1x), biopsy fiber type dystroportion" "00y00m01d" "" "congenital arthrogryposis" "" "" "" "" "" "myopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184423" "00183455" "1" "02947" "02947" "2018-10-25 15:31:17" "" "" "arrayCGH" "DNA" "" "" ## 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 = 4 "{{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}}" "0000323890" "0" "50" "15" "23002926" "23002928" "del" "0" "01804" "CYFIP1_000004" "g.23002926_23002928del" "" "" "" "CYFIP1(NM_014608.2):c.3648_3650delTGA (p.(Asp1216del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.22870145_22870147del" "" "VUS" "" "0000408468" "0" "50" "15" "22756504" "23088787" "dup" "0" "02947" "CYFIP1_000005" "g.(22500000_22756504)_(23088787_23100000)dup" "" "{PMID:Giugliano 2018:30373198}" "" "g.22756504_23088787dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000553619" "0" "50" "15" "23002903" "23002903" "subst" "2.48608E-5" "02327" "NIPA2_000001" "g.23002903C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22870163G>A" "" "VUS" "" "0001001246" "0" "30" "15" "23006301" "23006303" "dup" "0" "01804" "NIPA2_000002" "g.23006301_23006303dup" "" "" "" "NIPA2(NM_030922.6):c.1002_1004dupTGA (p.(Asn334_Glu335insAsp))" "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 NIPA2 ## Count = 7 "{{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}}" "0000323890" "00025386" "50" "4380" "0" "4382" "0" "c.*3297_*3299del" "r.(=)" "p.(=)" "" "0000323890" "00000240" "50" "4380" "0" "4382" "0" "c.*3297_*3299del" "r.(=)" "p.(=)" "" "0000408468" "00025386" "50" "0" "0" "0" "0" "c.-632_*1537[2]" "r.=" "p.=" "" "0000553619" "00025386" "50" "4401" "0" "4401" "0" "c.*3318G>A" "r.(=)" "p.(=)" "" "0000553619" "00000240" "50" "4401" "0" "4401" "0" "c.*3318G>A" "r.(=)" "p.(=)" "" "0001001246" "00025386" "30" "1002" "0" "1004" "0" "c.1002_1004dup" "r.(?)" "p.(Asn334_Glu335insAsp)" "" "0001001246" "00000240" "30" "1002" "0" "1004" "0" "c.1002_1004dup" "r.(?)" "p.(Asn334_Glu335insAsp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000184423" "0000408468"