### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NMNAT1) # 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}}" "NMNAT1" "nicotinamide nucleotide adenylyltransferase 1" "1" "p36.22" "unknown" "NC_000001.10" "UD_136089586122" "" "" "" "1" "1" "17877" "64802" "608700" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-12-10 20:50:51" "" "" "00000" "2013-12-10 20:50:51" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003156" "NMNAT1" "nicotinamide nucleotide adenylyltransferase 1" "001" "NM_022787.3" "" "NP_073624.2" "" "" "" "-144" "3637" "840" "10003486" "10045556" "00000" "2013-12-10 20:50:51" "" "" "" "1" "00003345" "NMNAT1" "transcript variant X2" "002" "XR_244792.1" "" "" "" "" "" "1" "2215" "2215" "10003533" "10044170" "00000" "2014-09-16 10:52:17" "" "" "" "" ## 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 = 9 "{{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}}" "0000000001" "0" "99" "1" "10032156" "10032156" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-05-21 05:02:21" "NMNAT1_000008" "g.10032156G>A" "" "" "" "" "subst" "0" ";" "2.990" "" "" "" "" "MSCV_0010001" "" "0000000002" "0" "99" "1" "10042370" "10042370" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-02-03 15:23:14" "NMNAT1_000007" "g.10042370G>T" "" "" "" "" "subst" "0" ";" "2.040" "" "" "" "" "MSCV_0010002" "" "0000000003" "0" "99" "1" "10042376" "10042376" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-02 23:43:53" "NMNAT1_000005" "g.10042376C>G" "" "" "" "" "subst" "0" ";" "-6.280" "" "" "" "" "MSCV_0010003" "" "0000000004" "0" "99" "1" "10042538" "10042538" "subst" "35" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-25 05:06:50" "NMNAT1_000006" "g.10042538C>T" "" "{PMID:22842229:22842229};{PMID:22842230:22842230}" "" "rs142968179" "subst" "0" "; clinvar; ensembl;" "2.950" "" "" "" "" "MSCV_0010004" "" "0000000005" "0" "99" "1" "10042629" "10042629" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-05-04 23:26:48" "NMNAT1_000001" "g.10042629G>T" "" "" "" "" "subst" "0" ";" "3.100" "" "" "" "" "MSCV_0010005" "" "0000000006" "0" "99" "1" "10042688" "10042688" "subst" "51" "0.00107643" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-31 12:03:23" "NMNAT1_000002" "g.10042688G>A" "" "{PMID:22842231:22842231};{PMID:22842229:22842229};{PMID:20301475:20301475};{PMID:22842227:22842227};{PMID:22842230:22842230}" "" "rs150726175" "subst" "0" "; clinvar; ensembl;" "5.010" "" "" "" "" "MSCV_0010006" "" "0000000007" "0" "99" "1" "10042736" "10042736" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-25 05:07:05" "NMNAT1_000003" "g.10042736A>G" "" "" "" "" "subst" "0" ";" "3.790" "" "" "" "" "MSCV_0010007" "" "0000000008" "0" "99" "1" "10042757" "10042757" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-25 05:06:06" "NMNAT1_000004" "g.10042757T>C" "" "" "" "" "subst" "0" ";" "-0.802" "" "" "" "" "MSCV_0010008" "" "0000001576" "0" "77" "1" "10032168" "10032168" "subst" "35" "0.000999539" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2019-02-25 05:07:24" "NMNAT1_000009" "g.10032168G>A" "" "" "" "rs138613460" "subst" "0" "; ensembl;" "3.920" "" "" "" "" "MSCV_0001576" "" ## 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 = 18 "{{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}}" "0000000001" "00003156" "55" "25" "0" "25" "0" "c.25G>A" "2/5" "p.?" "r.?" "probably_damaging(0.928)" "" "missense_variant" "" "" "deleterious(0)" "0000000001" "00003345" "55" "122" "0" "122" "0" "n.122G>A" "" "" "" "" "" "" "" "" "-" "0000000002" "00003156" "55" "451" "0" "451" "0" "c.451G>T" "5/5" "p.?" "r.?" "possibly_damaging(0.879)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000002" "00003345" "55" "548" "0" "548" "0" "n.548G>T" "" "" "" "" "" "" "" "" "-" "0000000003" "00003156" "55" "457" "0" "457" "0" "c.457C>G" "5/5" "p.(Leu153Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000003" "00003345" "55" "554" "0" "554" "0" "n.554C>G" "" "" "" "" "" "" "" "" "-" "0000000004" "00003156" "99" "619" "0" "619" "0" "c.619C>T" "5/5" "p.(Arg207Trp)" "r.(?)" "benign(0.025)" "" "missense_variant" "" "" "tolerated(0.07)" "0000000004" "00003345" "99" "716" "0" "716" "0" "n.716C>T" "" "" "" "" "" "" "" "" "-" "0000000005" "00003156" "55" "710" "0" "710" "0" "c.710G>T" "5/5" "p.(Arg237Leu)" "r.(?)" "possibly_damaging(0.758)" "" "missense_variant" "" "" "deleterious(0)" "0000000005" "00003345" "55" "807" "0" "807" "0" "n.807G>T" "" "" "" "" "" "" "" "" "-" "0000000006" "00003156" "99" "769" "0" "769" "0" "c.769G>A" "5/5" "p.(Glu257Lys)" "r.(?)" "benign(0.037)" "" "missense_variant" "" "" "tolerated(0.24)" "0000000006" "00003345" "99" "866" "0" "866" "0" "n.866G>A" "" "" "" "" "" "" "" "" "-" "0000000007" "00003156" "55" "817" "0" "817" "0" "c.817A>G" "5/5" "p.(Asn273Asp)" "r.(?)" "benign(0.193)" "" "missense_variant" "" "" "tolerated(0.12)" "0000000007" "00003345" "55" "914" "0" "914" "0" "n.914A>G" "" "" "" "" "" "" "" "" "-" "0000000008" "00003156" "55" "838" "0" "838" "0" "c.838T>C" "5/5" "p.?" "r.?" "-" "" "stop_lost" "" "" "-" "0000000008" "00003345" "55" "935" "0" "935" "0" "n.935T>C" "" "" "" "" "" "" "" "" "-" "0000001576" "00003156" "77" "37" "0" "37" "0" "c.37G>A" "2/5" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001576" "00003345" "77" "134" "0" "134" "0" "n.134G>A" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0