### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AMBN) # 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}}" "AMBN" "ameloblastin (enamel matrix protein)" "4" "q21" "unknown" "NC_000004.11" "UD_136019584720" "" "https://www.LOVD.nl/AMBN" "" "1" "452" "258" "601259" "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/AMBN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-17 20:59:01" "00000" "2024-08-28 13:16:32" ## 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}}" "00002420" "AMBN" "ameloblastin (enamel matrix protein)" "001" "NM_016519.5" "" "NP_057603.1" "" "" "" "-101" "1902" "1344" "71457975" "71473005" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04356" "AI1F" "amelogenesis imperfecta, type IF (AI1F)" "AR" "616270" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-10-17 20:58:16" "05650" "AI" "amelogenesis imperfecta (AI)" "" "" "" "" "" "00006" "2019-09-11 22:21:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AMBN" "04356" "AMBN" "05650" ## 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}}" "00385876" "" "" "" "3" "" "00006" "{PMID:Poulterh 2014:24858907}" "6-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Costa Rica" "" "0" "" "" "" "family" "00385891" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.53" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00385876" "05650" "00385891" "05650" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04356, 05650 ## 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}}" "0000279679" "05650" "00385876" "00006" "Familial, autosomal recessive" "" "hypoplastic amelogenesis imperfecta involving primary and secondary dentitions, no other health problems" "" "" "" "" "" "" "" "AI1F" "amelogenesis imperfecta" "0000279694" "05650" "00385891" "00006" "Unknown" "19y" "isolated hypoplastic amelogenesis imperfecta" "" "" "" "" "" "" "" "" "amelogenesis imperfecta" ## 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}}" "0000387104" "00385876" "1" "00006" "00006" "2021-10-17 21:04:23" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000387119" "00385891" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000387104" "AMBN" "0000387119" "AMBN" ## 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}}" "{{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}}" "0000814962" "3" "90" "4" "71465503" "71467850" "del" "0" "00006" "AMBN_000001" "g.71465503_71467850del" "" "{PMID:Poulterh 2014:24858907}" "" "294+139_531+478del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000814980" "3" "90" "4" "71468340" "71468340" "subst" "0" "00006" "AMBN_000002" "g.71468340G>C" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.70602623G>C" "" "pathogenic" "" "0000850653" "0" "90" "4" "71467349" "71467349" "subst" "0" "01943" "AMBN_000003" "g.71467349C>G" "" "" "" "AMBN(NM_016519.5):c.509C>G (p.S170*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928933" "0" "70" "4" "71468514" "71468514" "subst" "7.25052E-5" "02325" "AMBN_000004" "g.71468514G>C" "" "" "" "AMBN(NM_016519.6):c.571-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928934" "0" "50" "4" "71471905" "71471905" "subst" "0.00254997" "02325" "AMBN_000005" "g.71471905G>A" "" "" "" "AMBN(NM_016519.6):c.802G>A (p.G268R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963226" "0" "10" "4" "71472164" "71472164" "subst" "0.0403054" "02329" "AMBN_000006" "g.71472164T>C" "" "" "" "AMBN(NM_016519.6):c.1061T>C (p.L354P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963227" "0" "10" "4" "71472235" "71472235" "subst" "0.00546384" "02329" "AMBN_000007" "g.71472235G>A" "" "" "" "AMBN(NM_016519.6):c.1132G>A (p.V378I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994413" "0" "30" "4" "71471985" "71471985" "subst" "0.00420284" "01804" "AMBN_000008" "g.71471985C>A" "" "" "" "AMBN(NM_016519.5):c.882C>A (p.(His294Gln))" "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 AMBN ## Count = 8 "{{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}}" "0000814962" "00002420" "90" "294" "140" "531" "479" "c.294+140_531+479del" "r.(?)" "p.(Tyr99_Glu177del)" "" "0000814980" "00002420" "90" "532" "-1" "532" "-1" "c.532-1G>C" "r.spl" "p.0?" "" "0000850653" "00002420" "90" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Ser170*)" "" "0000928933" "00002420" "70" "571" "-1" "571" "-1" "c.571-1G>C" "r.spl?" "p.?" "" "0000928934" "00002420" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Gly268Arg)" "" "0000963226" "00002420" "10" "1061" "0" "1061" "0" "c.1061T>C" "r.(?)" "p.(Leu354Pro)" "" "0000963227" "00002420" "10" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Val378Ile)" "" "0000994413" "00002420" "30" "882" "0" "882" "0" "c.882C>A" "r.(?)" "p.(His294Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000387104" "0000814962" "0000387119" "0000814980"