### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALDH1A2) # 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}}" "ALDH1A2" "aldehyde dehydrogenase 1 family, member A2" "15" "q21.2" "unknown" "NG_012259.1" "UD_132368854112" "" "https://www.LOVD.nl/ALDH1A2" "" "1" "15472" "8854" "603687" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ALDH1A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-08 08:44:53" "00000" "2025-05-05 21:14:00" ## 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}}" "00025555" "ALDH1A2" "transcript variant 1" "002" "NM_003888.3" "" "NP_003879.2" "" "" "" "-273" "3330" "1557" "58358121" "58245622" "00006" "2020-10-08 08:46:16" "" "" ## 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}}" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00313912" "" "" "" "3" "" "03816" "{PMID:Beecroft 2021:33565183}, {DOI:Beecroft 2021:10.1002/humu.24179}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "no" "Australia" "<01y" "0" "" "" "white" "FamAus1PatII1/II3/II6" "00313913" "" "" "" "1" "" "03816" "{PMID:Beecroft 2021:33565183}, {DOI:Beecroft 2021:10.1002/humu.24179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Italy" "<01y" "0" "" "" "" "FamITA1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00313912" "00385" "00313913" "00385" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00385 ## Count = 2 "{{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}}" "0000238236" "00385" "00313912" "03816" "Familial, autosomal recessive" "<01y" "" "<01y" "" "" "" "" "" "" "" "" "0000238237" "00385" "00313913" "03816" "Familial, autosomal recessive" "" "see paper; ..., pulmonary atresia, aortopulmonary collaterals, diaphragmatic hernia (left), pulmonary hypoplasia (unilateral), dysmorphic features; left congenital diaphragmatic hernia and complex heart defects diagnosed by ultrasound; pulmonary artery hypoplasia, aortic root ectasia, 3 aorto- pulmonary collateral arteries; unilateral hypoplasia; bulbous nose, micrognathia, pterygia, club feet" "<01y" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000315085" "00313912" "1" "03816" "03816" "2020-10-07 10:23:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000315086" "00313913" "1" "03816" "03816" "2020-10-07 10:42:14" "" "" "SEQ-NG-I" "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 = 19 "{{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}}" "0000324130" "0" "30" "15" "58253490" "58253490" "subst" "0.00247595" "01804" "ALDH1A2_000001" "g.58253490G>T" "" "" "" "ALDH1A2(NM_001206897.1):c.1191C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57961292G>T" "" "likely benign" "" "0000324132" "0" "50" "15" "58357788" "58357788" "subst" "4.11668E-6" "01804" "ALDH1A2_000003" "g.58357788C>T" "" "" "" "ALDH1A2(NM_001206897.1):c.-100G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58065590C>T" "" "VUS" "" "0000554841" "0" "30" "15" "58247449" "58247449" "subst" "0.00160841" "02327" "ALDH1A2_000005" "g.58247449C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57955251C>T" "" "likely benign" "" "0000554842" "0" "30" "15" "58253454" "58253454" "subst" "4.87956E-5" "02325" "ALDH1A2_000006" "g.58253454C>T" "" "" "" "ALDH1A2(NM_001206897.2):c.1227G>A (p.T409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57961256C>T" "" "likely benign" "" "0000554843" "0" "50" "15" "58254277" "58254277" "subst" "4.062E-6" "02325" "ALDH1A2_000007" "g.58254277T>A" "" "" "" "ALDH1A2(NM_001206897.2):c.1121A>T (p.K374M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57962079T>A" "" "VUS" "" "0000554844" "0" "30" "15" "58256188" "58256188" "subst" "1.22165E-5" "02327" "ALDH1A2_000008" "g.58256188G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57963990G>A" "" "likely benign" "" "0000554846" "0" "30" "15" "58302887" "58302887" "subst" "0.00826517" "02327" "ALDH1A2_000010" "g.58302887T>C" "" "" "" "ALDH1A2(NM_003888.4):c.453A>G (p.(Ala151=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58010689T>C" "" "likely benign" "" "0000554847" "0" "30" "15" "58357854" "58357854" "subst" "0.0337685" "02327" "ALDH1A2_000011" "g.58357854C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58065656C>T" "" "likely benign" "" "0000615404" "0" "30" "15" "58306107" "58306107" "subst" "0.00014222" "02327" "ALDH1A2_000012" "g.58306107A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58013909A>G" "" "likely benign" "" "0000697155" "11" "90" "15" "58287287" "58287287" "subst" "0" "03816" "ALDH1A2_000014" "g.58287287G>T" "" "{PMID:Beecroft 2021:33565183}, {DOI:Beecroft 2021:10.1002/humu.24179}" "" "" "" "Germline" "" "" "0" "" "" "g.57995089G>T" "" "pathogenic (recessive)" "ACMG" "0000697156" "21" "90" "15" "58253362" "58253362" "subst" "0" "03816" "ALDH1A2_000013" "g.58253362G>T" "" "{PMID:Beecroft 2021:33565183}, {DOI:Beecroft 2021:10.1002/humu.24179}" "" "" "" "Germline" "" "" "0" "" "" "g.57961164G>T" "" "pathogenic (recessive)" "ACMG" "0000697157" "21" "90" "15" "58256129" "58256129" "subst" "2.84903E-5" "03816" "ALDH1A2_000016" "g.58256129C>T" "" "{PMID:Beecroft 2021:33565183}, {DOI:Beecroft 2021:10.1002/humu.24179}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57963931C>T" "" "pathogenic (recessive)" "ACMG" "0000697158" "11" "90" "15" "58254314" "58254314" "subst" "8.12618E-6" "03816" "ALDH1A2_000015" "g.58254314C>T" "" "{PMID:Beecroft 2021:33565183}, {DOI:Beecroft 2021:10.1002/humu.24179}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57962116C>T" "" "pathogenic (recessive)" "ACMG" "0000892167" "0" "50" "15" "58253449" "58253449" "subst" "8.13127E-6" "02325" "ALDH1A2_000017" "g.58253449T>C" "" "" "" "ALDH1A2(NM_003888.4):c.1295A>G (p.D432G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981315" "0" "10" "15" "58252958" "58252958" "subst" "0.00484153" "01804" "ALDH1A2_000018" "g.58252958T>G" "" "" "" "ALDH1A2(NM_003888.4):c.1484+10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040465" "0" "50" "15" "58256129" "58256129" "subst" "2.84903E-5" "01804" "ALDH1A2_000016" "g.58256129C>T" "" "" "" "ALDH1A2(NM_003888.4):c.1040G>A (p.(Arg347His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040466" "0" "30" "15" "58257913" "58257913" "subst" "8.12942E-6" "01804" "ALDH1A2_000019" "g.58257913G>A" "" "" "" "ALDH1A2(NM_003888.4):c.901+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040467" "0" "30" "15" "58258035" "58258035" "subst" "0" "01804" "ALDH1A2_000020" "g.58258035G>C" "" "" "" "ALDH1A2(NM_003888.4):c.799-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040468" "0" "30" "15" "58302887" "58302887" "subst" "0.00826517" "01804" "ALDH1A2_000010" "g.58302887T>C" "" "" "" "ALDH1A2(NM_003888.4):c.453A>G (p.(Ala151=))" "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 ALDH1A2 ## Count = 19 "{{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}}" "0000324130" "00025555" "30" "1254" "0" "1254" "0" "c.1254C>A" "r.(?)" "p.(Ile418=)" "" "0000324132" "00025555" "50" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Ala21Thr)" "" "0000554841" "00025555" "30" "1503" "0" "1503" "0" "c.1503G>A" "r.(?)" "p.(Arg501=)" "" "0000554842" "00025555" "30" "1290" "0" "1290" "0" "c.1290G>A" "r.(?)" "p.(Thr430=)" "" "0000554843" "00025555" "50" "1184" "0" "1184" "0" "c.1184A>T" "r.(?)" "p.(Lys395Met)" "" "0000554844" "00025555" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Phe327=)" "" "0000554846" "00025555" "30" "453" "0" "453" "0" "c.453A>G" "r.(?)" "p.(Ala151=)" "" "0000554847" "00025555" "30" "-6" "0" "-6" "0" "c.-6G>A" "r.(?)" "p.(=)" "" "0000615404" "00025555" "30" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Arg104=)" "" "0000697155" "00025555" "90" "544" "0" "544" "0" "c.544C>A" "r.(?)" "p.(Gln182Lys)" "" "0000697156" "00025555" "90" "1382" "0" "1382" "0" "c.1382C>A" "r.(?)" "p.(Ser461Tyr)" "" "0000697157" "00025555" "90" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0000697158" "00025555" "90" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "" "0000892167" "00025555" "50" "1295" "0" "1295" "0" "c.1295A>G" "r.(?)" "p.(Asp432Gly)" "" "0000981315" "00025555" "10" "1484" "10" "1484" "10" "c.1484+10A>C" "r.(=)" "p.(=)" "" "0001040465" "00025555" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0001040466" "00025555" "30" "901" "10" "901" "10" "c.901+10C>T" "r.(=)" "p.(=)" "" "0001040467" "00025555" "30" "799" "-10" "799" "-10" "c.799-10C>G" "r.(=)" "p.(=)" "" "0001040468" "00025555" "30" "453" "0" "453" "0" "c.453A>G" "r.(?)" "p.(Ala151=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000315085" "0000697155" "0000315085" "0000697156" "0000315086" "0000697157" "0000315086" "0000697158"