### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SAA1) # 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}}" "SAA1" "serum amyloid A1" "11" "p15.1" "unknown" "NG_021330.1" "UD_132084522841" "" "http://www.LOVD.nl/SAA1" "" "1" "10513" "6288" "104750" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SAA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-09 03:11:35" "00000" "2024-04-19 20:27:30" ## 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}}" "00024093" "SAA1" "transcript variant 1" "002" "NM_000331.4" "" "NP_000322.2" "" "" "" "-187" "491" "369" "18287808" "18291524" "00006" "2016-01-09 03:09:29" "" "" ## 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}}" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00056440" "" "" "" "3" "" "00552" "{PMID:Watson 2016:26733463}, {DOI:Watson 2016:10.1136/jmedgenet-2015-103620}" "3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents" "" "yes" "(United Kingdom (Great Britain))" "" "0" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00056440" "01666" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01666 ## Count = 1 "{{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}}" "0000043064" "01666" "00056440" "00006" "Familial, autosomal recessive" "00y00m00d" "see paper; data from 3 children, died <2d, ..." "00y00m00d" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056401" "00056440" "1" "00552" "00552" "2016-01-08 15:39:41" "00006" "2016-01-09 02:57:10" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000056401" "MYOD1" "0000056401" "OTOG" ## 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 = 21 "{{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}}" "0000086650" "3" "50" "11" "18290874" "18290874" "subst" "0.533449" "00006" "SAA1_000001" "g.18290874T>C" "" "{PMID:Watson 2016:26733463}, {DOI:Watson 2016:10.1136/jmedgenet-2015-103620}" "" "" "not associated with phenotype (homozygous in unaffected mother)" "Germline" "no" "" "0" "" "" "g.18269327T>C" "" "VUS" "" "0000247012" "0" "10" "11" "18305359" "18305359" "subst" "0.000711608" "02330" "HPS5_000017" "g.18305359A>T" "" "" "" "HPS5(NM_181507.2):c.3041T>A (p.L1014Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18283812A>T" "" "benign" "" "0000247026" "0" "10" "11" "18309568" "18309568" "subst" "0.00142396" "02330" "HPS5_000021" "g.18309568A>G" "" "" "" "HPS5(NM_181507.1):c.2441-8T>C, HPS5(NM_181507.2):c.2441-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18288021A>G" "" "benign" "" "0000277755" "0" "50" "11" "18309480" "18309480" "subst" "9.75118E-5" "02330" "HPS5_000020" "g.18309480C>A" "" "" "" "HPS5(NM_181507.2):c.2521G>T (p.V841F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18287933C>A" "" "VUS" "" "0000277756" "0" "10" "11" "18309251" "18309251" "subst" "0.000357758" "02330" "HPS5_000019" "g.18309251C>G" "" "" "" "HPS5(NM_181507.2):c.2562-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18287704C>G" "" "benign" "" "0000277757" "0" "10" "11" "18309204" "18309204" "subst" "0" "02330" "HPS5_000018" "g.18309204T>C" "" "" "" "HPS5(NM_181507.2):c.2595A>G (p.R865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18287657T>C" "" "benign" "" "0000277758" "0" "10" "11" "18305355" "18305355" "subst" "0.00532793" "02330" "HPS5_000013" "g.18305355C>T" "" "" "" "HPS5(NM_181507.1):c.3045G>A (p.M1015I), HPS5(NM_181507.2):c.3045G>A (p.M1015I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18283808C>T" "" "benign" "" "0000277759" "0" "10" "11" "18303748" "18303748" "subst" "0" "02330" "HPS5_000012" "g.18303748C>T" "" "" "" "HPS5(NM_181507.2):c.3078G>A (p.V1026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18282201C>T" "" "benign" "" "0000277761" "0" "10" "11" "18303609" "18303609" "subst" "0.000938056" "02330" "HPS5_000011" "g.18303609T>C" "" "" "" "HPS5(NM_181507.1):c.3217A>G (p.M1073V), HPS5(NM_181507.2):c.3217A>G (p.M1073V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18282062T>C" "" "benign" "" "0000277762" "0" "50" "11" "18303597" "18303597" "subst" "0.00159999" "02330" "HPS5_000010" "g.18303597G>A" "" "" "" "HPS5(NM_181507.2):c.3229C>T (p.R1077W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18282050G>A" "" "VUS" "" "0000277763" "0" "10" "11" "18303533" "18303533" "subst" "0.0236192" "02330" "HPS5_000006" "g.18303533G>A" "" "" "" "HPS5(NM_181507.1):c.3293C>T (p.T1098I), HPS5(NM_181507.2):c.3293C>T (p.T1098I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18281986G>A" "" "benign" "" "0000285134" "0" "30" "11" "18305355" "18305355" "subst" "0.00532793" "02326" "HPS5_000013" "g.18305355C>T" "" "" "" "HPS5(NM_181507.1):c.3045G>A (p.M1015I), HPS5(NM_181507.2):c.3045G>A (p.M1015I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18283808C>T" "" "likely benign" "" "0000543318" "0" "10" "11" "18303533" "18303533" "subst" "0.0236192" "02326" "HPS5_000006" "g.18303533G>A" "" "" "" "HPS5(NM_181507.1):c.3293C>T (p.T1098I), HPS5(NM_181507.2):c.3293C>T (p.T1098I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18281986G>A" "" "benign" "" "0000543319" "0" "10" "11" "18309568" "18309568" "subst" "0.00142396" "01943" "HPS5_000021" "g.18309568A>G" "" "" "" "HPS5(NM_181507.1):c.2441-8T>C, HPS5(NM_181507.2):c.2441-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18288021A>G" "" "benign" "" "0000613222" "0" "30" "11" "18305354" "18305354" "subst" "0.00132182" "01943" "HPS5_000048" "g.18305354C>T" "" "" "" "HPS5(NM_181507.1):c.3046G>A (p.E1016K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18283807C>T" "" "likely benign" "" "0000622610" "0" "30" "11" "18305452" "18305452" "subst" "5.29972E-5" "02325" "HPS5_000049" "g.18305452T>C" "" "" "" "HPS5(NM_181507.2):c.2952-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18283905T>C" "" "likely benign" "" "0000679133" "0" "30" "11" "18308254" "18308254" "subst" "0.00029663" "01943" "HPS5_000053" "g.18308254T>C" "" "" "" "HPS5(NM_181507.1):c.2721A>G (p.S907=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723347" "0" "30" "11" "18306964" "18306964" "subst" "4.06474E-6" "01943" "HPS5_000058" "g.18306964G>A" "" "" "" "HPS5(NM_181507.1):c.2880C>T (p.I960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862467" "0" "50" "11" "18301495" "18301495" "subst" "0" "01943" "HPS5_000076" "g.18301495A>C" "" "" "" "HPS5(NM_181507.1):c.3330-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862468" "0" "90" "11" "18309195" "18309198" "del" "0" "01943" "HPS5_000077" "g.18309195_18309198del" "" "" "" "HPS5(NM_181507.1):c.2603_2606delTCAA (p.I868Sfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929832" "0" "30" "11" "18303609" "18303609" "subst" "0.000938056" "02326" "HPS5_000011" "g.18303609T>C" "" "" "" "HPS5(NM_181507.1):c.3217A>G (p.M1073V), HPS5(NM_181507.2):c.3217A>G (p.M1073V)" "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 SAA1 ## Count = 21 "{{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}}" "0000086650" "00024093" "50" "224" "0" "224" "0" "c.224T>C" "r.(?)" "p.(Val75Ala)" "3" "0000247012" "00024093" "10" "14326" "0" "14326" "0" "c.*13957A>T" "r.(=)" "p.(=)" "" "0000247026" "00024093" "10" "18535" "0" "18535" "0" "c.*18166A>G" "r.(=)" "p.(=)" "" "0000277755" "00024093" "50" "18447" "0" "18447" "0" "c.*18078C>A" "r.(=)" "p.(=)" "" "0000277756" "00024093" "10" "18218" "0" "18218" "0" "c.*17849C>G" "r.(=)" "p.(=)" "" "0000277757" "00024093" "10" "18171" "0" "18171" "0" "c.*17802T>C" "r.(=)" "p.(=)" "" "0000277758" "00024093" "10" "14322" "0" "14322" "0" "c.*13953C>T" "r.(=)" "p.(=)" "" "0000277759" "00024093" "10" "12715" "0" "12715" "0" "c.*12346C>T" "r.(=)" "p.(=)" "" "0000277761" "00024093" "10" "12576" "0" "12576" "0" "c.*12207T>C" "r.(=)" "p.(=)" "" "0000277762" "00024093" "50" "12564" "0" "12564" "0" "c.*12195G>A" "r.(=)" "p.(=)" "" "0000277763" "00024093" "10" "12500" "0" "12500" "0" "c.*12131G>A" "r.(=)" "p.(=)" "" "0000285134" "00024093" "30" "14322" "0" "14322" "0" "c.*13953C>T" "r.(=)" "p.(=)" "" "0000543318" "00024093" "10" "12500" "0" "12500" "0" "c.*12131G>A" "r.(=)" "p.(=)" "" "0000543319" "00024093" "10" "18535" "0" "18535" "0" "c.*18166A>G" "r.(=)" "p.(=)" "" "0000613222" "00024093" "30" "14321" "0" "14321" "0" "c.*13952C>T" "r.(=)" "p.(=)" "" "0000622610" "00024093" "30" "14419" "0" "14419" "0" "c.*14050T>C" "r.(=)" "p.(=)" "" "0000679133" "00024093" "30" "17221" "0" "17221" "0" "c.*16852T>C" "r.(=)" "p.(=)" "" "0000723347" "00024093" "30" "15931" "0" "15931" "0" "c.*15562G>A" "r.(=)" "p.(=)" "" "0000862467" "00024093" "50" "10462" "0" "10462" "0" "c.*10093A>C" "r.(=)" "p.(=)" "" "0000862468" "00024093" "90" "18162" "0" "18165" "0" "c.*17793_*17796del" "r.(=)" "p.(=)" "" "0000929832" "00024093" "30" "12576" "0" "12576" "0" "c.*12207T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000056401" "0000086650"