### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AIPL1) # 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}}" "AIPL1" "aryl hydrocarbon receptor interacting protein-like 1" "17" "p13.1" "unknown" "NG_008474.1" "UD_139310073754" "" "" "" "1" "1" "359" "23746" "604392" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2014-04-18 19:00:23" "" "" "00000" "2014-04-18 19:00:23" "" ## 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}}" "00003258" "AIPL1" "transcript variant 1" "006" "NM_014336.3" "" "NP_055151.3" "" "" "" "-95" "2878" "1155" "6327059" "6338519" "00000" "2014-04-18 19:00:23" "" "" "" "" ## 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 = 8 "{{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}}" "0000000664" "0" "99" "17" "6328809" "6328809" "subst" "35" "0.0208783" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 18:17:08" "AIPL1_000007" "g.6328809G>A" "" "{PMID:20301475:20301475}" "" "rs61757484" "subst" "0" ";" "0.520" "" "" "" "" "MSCV_0000664" "" "0000000665" "0" "00" "17" "6328924" "6328925" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 18:13:25" "AIPL1_000008" "g.6328924_6328925del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000665" "" "0000000666" "0" "99" "17" "6329030" "6329030" "subst" "35" "0.000538213" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 18:44:38" "AIPL1_000001" "g.6329030C>A" "" "{PMID:20301475:20301475}" "" "rs62637015" "subst" "0" ";" "-3.890" "" "" "" "" "MSCV_0000666" "" "0000000667" "0" "99" "17" "6329101" "6329101" "subst" "35" "0.000615101" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 18:26:15" "AIPL1_000002" "g.6329101C>T" "" "{PMID:10615133:10615133};{PMID:10873396:10873396};{PMID:20301475:20301475}" "" "rs62637014" "subst" "0" "; clinvar; ensembl;" "5.140" "" "" "" "" "MSCV_0000667" "" "0000000668" "0" "99" "17" "6329935" "6329935" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 18:35:55" "AIPL1_000003" "g.6329935C>T" "" "{PMID:20301475:20301475}" "" "rs142326926" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0000668" "" "0000000669" "0" "99" "17" "6330004" "6330004" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 18:34:54" "AIPL1_000004" "g.6330004A>G" "" "{PMID:10615133:10615133};{PMID:20301475:20301475}" "" "rs62637012" "subst" "0" "; clinvar; ensembl;" "4.070" "" "" "" "" "MSCV_0000669" "" "0000000670" "0" "99" "17" "6330226" "6330226" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 17:01:14" "AIPL1_000005" "g.6330226A>T" "" "{PMID:20301475:20301475}" "" "rs62637011" "subst" "0" ";" "4.950" "" "" "" "" "MSCV_0000670" "" "0000000671" "0" "99" "17" "6330254" "6330254" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-08 18:50:35" "AIPL1_000006" "g.6330254C>G" "" "{PMID:20301475:20301475}" "" "rs62637010" "subst" "0" ";" "4.710" "" "" "" "" "MSCV_0000671" "" ## 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 = 8 "{{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}}" "0000000664" "00003258" "00" "1126" "0" "1126" "0" "c.1126C>T" "6/6" "p.(Pro376Ser)" "r.(?)" "unknown(0)" "" "missense_variant" "" "" "tolerated(0.2)" "0000000665" "00003258" "00" "1011" "0" "1010" "0" "c.1010_1011del" "" "p.(Glu337Alafs*70)" "r.(?)" "" "" "" "" "" "-" "0000000666" "00003258" "00" "905" "0" "905" "0" "c.905G>T" "6/6" "p.(Arg302Leu)" "r.(?)" "benign(0.004)" "" "missense_variant" "" "" "tolerated(0.17)" "0000000667" "00003258" "99" "834" "0" "834" "0" "c.834G>A" "6/6" "p.(Trp278*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000668" "00003258" "00" "784" "0" "784" "0" "c.784G>A" "5/6" "p.(Gly262Ser)" "r.(?)" "benign(0.284)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.31)" "0000000669" "00003258" "99" "715" "0" "715" "0" "c.715T>C" "5/6" "p.(Cys239Arg)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000000670" "00003258" "00" "617" "0" "617" "0" "c.617T>A" "4/6" "p.(Ile206Asn)" "r.(?)" "benign(0.21)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000671" "00003258" "00" "589" "0" "589" "0" "c.589G>C" "4/6" "p.(Ala197Pro)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0.03)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0