### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDH2) # 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}}" "ALDH2" "aldehyde dehydrogenase 2 family (mitochondrial)" "12" "q24.12" "unknown" "NC_000012.11" "UD_132085325748" "" "" "" "1" "1" "404" "217" "100650" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "00000435" "ALDH2" "transcript variant 1" "001" "NM_000690.3" "" "NP_000681.2" "" "" "" "-96" "1964" "1554" "112204691" "112247789" "00001" "2013-11-12 21:27:51" "" "" "" "12" "00000436" "ALDH2" "transcript variant 2" "002" "NM_001204889.1" "" "NP_001191818.1" "" "" "" "-96" "1823" "1413" "112204691" "112247789" "00001" "2013-11-12 21:27:51" "" "" "" "12" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00081" "610251" "Alcohol sensitivity, acute, 610251 (3)" "610251" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ALDH2" "00081" ## 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 = 4 "{{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}}" "0000000484" "0" "77" "12" "112241766" "112241766" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-07 15:16:58" "ALDH2_000001" "g.112241766G>A" "" "{PMID:10780266:10780266};{PMID:15654505:15654505};{PMID:16046871:16046871};{PMID:17885622:17885622};{PMID:10627091:10627091};{PMID:16440063:16440063};{PMID:18056758:18056758};{PMID:2987944:2987944};{PMID:4065146:4065146};{PMID:8903321:8903321};{PMID:20010" "" "rs671" "subst" "0" "; clinvar;" "6.050" "" "" "" "" "MSCV_0000484" "" "0000005181" "0" "99" "12" "112241766" "112241766" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-02-28 16:09:02" "ALDH2_000001" "g.112241766G>A" "" "{PMID:10780266:10780266};{PMID:15654505:15654505};{PMID:16046871:16046871};{PMID:17885622:17885622};{PMID:10627091:10627091};{PMID:16440063:16440063};{PMID:18056758:18056758};{PMID:2987944:2987944};{PMID:4065146:4065146};{PMID:8903321:8903321};{PMID:20010" "" "rs671" "subst" "0" "; ensembl;" "6.050" "" "" "" "" "MSCV_0005181" "" "0000016963" "0" "99" "12" "112241766" "112241766" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-08 17:48:37" "ALDH2_000001" "g.112241766G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000484" "" "0000024637" "0" "00" "12" "112229871" "112229871" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-08 16:54:18" "ALDH2_000002" "g.112229871C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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}}" "0000000484" "00000435" "77" "1510" "0" "1510" "0" "c.1510G>A" "12/13" "p.(Glu504Lys)" "r.(?)" "probably_damaging(0.91)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000484" "00000436" "77" "1369" "0" "1369" "0" "c.1369G>A" "11/12" "p.(Glu457Lys)" "r.(?)" "probably_damaging(0.955)" "" "missense_variant" "" "" "deleterious(0.01)" "0000005181" "00000435" "00" "1510" "0" "1510" "0" "c.1510G>A" "12/13" "p.(Glu504Lys)" "r.(?)" "probably_damaging(0.91)" "" "missense_variant" "" "" "deleterious(0.01)" "0000005181" "00000436" "00" "1369" "0" "1369" "0" "c.1369G>A" "11/12" "p.(Glu457Lys)" "r.(?)" "probably_damaging(0.955)" "" "missense_variant" "" "" "deleterious(0.01)" "0000016963" "00000435" "00" "1510" "0" "1510" "0" "c.1510G>A" "" "p.(Glu504Lys)" "r.(?)" "" "" "" "" "" "-" "0000016963" "00000436" "00" "1369" "0" "1369" "0" "c.1369G>A" "" "p.(Glu457Lys)" "r.(?)" "" "" "" "" "" "-" "0000024637" "00000435" "00" "802" "0" "802" "0" "c.802C>T" "" "p.(Arg268Cys)" "r.(?)" "" "" "" "" "" "-" "0000024637" "00000436" "00" "661" "0" "661" "0" "c.661C>T" "" "p.(Arg221Cys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0