### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SFTPA1) # 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}}" "SFTPA1" "surfactant protein A1" "10" "q22.3" "unknown" "NG_021189.1" "UD_132118238522" "" "https://www.LOVD.nl/SFTPA1" "" "1" "10798" "653509" "178630" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-07 10:51:52" "00000" "2025-02-07 18:57:27" ## 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}}" "00018788" "SFTPA1" "transcript variant 1" "001" "NM_005411.4" "" "NP_005402.3" "" "" "" "-138" "2077" "747" "81370695" "81375199" "" "0000-00-00 00:00:00" "" "" "00025480" "SFTPA1" "transcript variant 2" "007" "NM_001093770.2" "" "NP_001087239.2" "" "" "" "-82" "2122" "792" "81370695" "81375199" "00006" "2019-12-07 10:53:17" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "01536" "IPF" "fibrosis, pulmonary, idiopathic (IPF)" "AD" "178500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-02-10 12:49:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SFTPA1" "01536" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00265344" "" "" "" "3" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Iran" "" "0" "" "" "" "Fam2PatIV1" "00295609" "" "" "" "2" "" "03583" "{PMID:Nathan 2016:26792177}" "" "M" "no" "France" ">53y" "" "see report" "" "" "" "00295615" "" "" "00295609" "1" "" "03583" "{PMID:Nathan 2016:26792177}" "" "F" "" "France" ">58y" "" "" "" "" "" "00295617" "" "" "" "1" "" "03583" "{PMID:Doubkova 2019:30854216}" "" "M" "no" "Czech Republic" "57y" "0" "" "" "" "" "00295618" "" "" "" "1" "" "03583" "{PMID:Pradipkumar 2017:28869238}" "" "M" "?" "India" ">46y" "0" "" "" "" "" "00295620" "" "" "" "1" "" "03583" "{PMID:Takezaki 2019:31601679}" "" "M" "yes" "Japan" "32y" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00265344" "00139" "00295609" "01536" "00295615" "01536" "00295617" "01536" "00295618" "01536" "00295620" "01536" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 01536 ## Count = 7 "{{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}}" "0000203141" "00139" "00265344" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "0000223173" "01536" "00295609" "03583" "Familial, autosomal dominant" "" "idiopathic interstitial pneumonitis (IIP)" "" "45y" "" "" "" "" "" "" "" "0000223183" "01536" "00295617" "03583" "Familial, autosomal dominant" "" "interstitial pneumonitis, not necessarily IPF" "" "46y" "" "" "" "" "" "" "" "0000223184" "01536" "00295618" "03583" "Familial, autosomal dominant" "" "interstitial pneumonitis, not necessarily IPF" "" "45y" "" "" "" "" "" "" "" "0000223186" "01536" "00295620" "03583" "Unknown" "" "interstitial pneumonitis, not necessarily IPF" "" "24y" "" "" "" "" "" "" "" "0000281587" "00639" "00295609" "03583" "Familial, autosomal dominant" "" "adenocarcinoma" "50y" "" "" "" "" "" "" "" "" "0000281588" "00639" "00295615" "03583" "Familial, autosomal dominant" "" "" "54y" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000266463" "00265344" "1" "03427" "03427" "2019-09-20 22:16:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000296780" "00295609" "1" "03583" "03583" "2020-03-19 09:19:34" "" "" "SEQ" "DNA" "" "" "0000296786" "00295615" "1" "03583" "03583" "2020-03-19 15:11:02" "" "" "SEQ" "DNA" "" "" "0000296788" "00295617" "1" "03583" "03583" "2020-03-19 15:42:14" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000296789" "00295618" "1" "03583" "03583" "2020-03-19 16:01:42" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000296792" "00295620" "1" "03583" "03583" "2020-03-19 16:29:24" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000296780" "SFTPA1" "0000296786" "SFTPA1" "0000296788" "SFTPA1" "0000296789" "SFTPA1" "0000296792" "SFTPA1" ## 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 = 17 "{{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}}" "0000298151" "0" "10" "10" "81371729" "81371729" "subst" "0.495185" "02325" "SFTPA1_000001" "g.81371729C>G" "" "" "" "SFTPA1(NM_005411.5):c.148C>G (p.L50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79611973C>G" "" "benign" "" "0000307983" "0" "30" "10" "81372080" "81372080" "subst" "0.00258676" "01943" "SFTPA1_000002" "g.81372080C>T" "" "" "" "SFTPA1(NM_005411.4):c.185C>T (p.P62L), SFTPA1(NM_005411.5):c.185C>T (p.P62L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79612324C>T" "" "likely benign" "" "0000307984" "0" "70" "10" "81373504" "81373504" "subst" "0" "01943" "SFTPA1_000003" "g.81373504C>T" "" "" "" "SFTPA1(NM_005411.4):c.382C>T (p.Q128*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79613748C>T" "" "likely pathogenic" "" "0000541088" "0" "30" "10" "81371595" "81371595" "subst" "0.000719758" "01943" "SFTPA1_000004" "g.81371595C>T" "" "" "" "SFTPA1(NM_005411.4):c.14C>T (p.P5L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79611839C>T" "" "likely benign" "" "0000541089" "0" "30" "10" "81372166" "81372166" "subst" "0.00701187" "01804" "SFTPA1_000005" "g.81372166C>G" "" "" "" "SFTPA1(NM_001093770.2):c.316C>G (p.(Pro106Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79612410C>G" "" "likely benign" "" "0000541090" "0" "50" "10" "81372996" "81372996" "subst" "1.21829E-5" "01943" "SFTPA1_000006" "g.81372996G>T" "" "" "" "SFTPA1(NM_005411.4):c.344G>T (p.R115I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79613240G>T" "" "VUS" "" "0000612695" "0" "30" "10" "81371716" "81371716" "subst" "0.000777947" "01943" "SFTPA1_000008" "g.81371716C>T" "" "" "" "SFTPA1(NM_005411.4):c.135C>T (p.D45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79611960C>T" "" "likely benign" "" "0000624796" "3" "50" "10" "81372151" "81372151" "subst" "0" "00006" "SFTPA1_000007" "g.81372151G>A" "" "{PMID:Dias 2019:31668703}" "" "" "variant segregating with clinical phenotype" "Germline" "yes" "" "0" "" "" "g.79612395G>A" "" "VUS" "" "0000653489" "20" "90" "10" "81373753" "81373753" "subst" "0" "03583" "SFTPA1_000009" "g.81373753T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.79613997T>C" "" "VUS" "" "0000653495" "20" "90" "10" "81373753" "81373753" "subst" "0" "03583" "SFTPA1_000009" "g.81373753T>C" "" "{PMID:Nathan 2016:26792177}" "" "" "" "Germline" "" "" "" "" "" "g.79613997T>C" "" "VUS" "" "0000653497" "21" "70" "10" "81373654" "81373654" "subst" "4.06739E-6" "03583" "SFTPA1_000010" "g.81373654G>A" "" "{PMID:Doubkova 2019:30854216}" "" "" "" "Germline" "yes" "rs1215316727" "0" "" "" "g.79613898G>A" "" "likely pathogenic" "" "0000653498" "0" "50" "10" "81373682" "81373682" "subst" "0" "03583" "SFTPA1_000011" "g.81373682T>C" "" "{PMID:Pradipkumar 2017:28869238}" "" "" "" "Unknown" "?" "" "0" "" "" "g.79613926T>C" "" "VUS" "" "0000653499" "3" "90" "10" "81373744" "81373744" "subst" "0" "03583" "SFTPA1_000012" "g.81373744T>C" "" "{PMID:Takezaki:31601679}" "" "" "" "Germline" "?" "" "" "" "" "g.79613988T>C" "" "VUS" "" "0000722957" "0" "30" "10" "81373474" "81373474" "subst" "8.53915E-5" "02326" "SFTPA1_000013" "g.81373474C>T" "" "" "" "SFTPA1(NM_005411.5):c.371-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889268" "0" "10" "10" "81371164" "81371164" "subst" "0" "02326" "SFTPA1_000014" "g.81371164A>G" "" "" "" "SFTPA1(NM_005411.5):c.-24+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965872" "0" "50" "10" "81372080" "81372080" "subst" "0.00258676" "02325" "SFTPA1_000002" "g.81372080C>T" "" "" "" "SFTPA1(NM_005411.4):c.185C>T (p.P62L), SFTPA1(NM_005411.5):c.185C>T (p.P62L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025773" "0" "50" "10" "81371391" "81371391" "subst" "0" "02325" "SFTPA1_000015" "g.81371391G>A" "" "" "" "SFTPA1(NM_005411.5):c.-23-168G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 SFTPA1 ## Count = 31 "{{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}}" "0000298151" "00018788" "10" "148" "0" "148" "0" "c.148C>G" "r.(?)" "p.(Leu50Val)" "" "0000298151" "00025480" "10" "193" "0" "193" "0" "c.193C>G" "r.(?)" "p.(Leu65Val)" "" "0000307983" "00018788" "30" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "" "0000307983" "00025480" "30" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" "" "0000307984" "00018788" "70" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Gln128Ter)" "" "0000307984" "00025480" "70" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Gln143Ter)" "" "0000541088" "00018788" "30" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Pro5Leu)" "" "0000541088" "00025480" "30" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Pro20Leu)" "" "0000541089" "00018788" "30" "271" "0" "271" "0" "c.271C>G" "r.(?)" "p.(Pro91Ala)" "" "0000541089" "00025480" "30" "316" "0" "316" "0" "c.316C>G" "r.(?)" "p.(Pro106Ala)" "" "0000541090" "00018788" "50" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Ile)" "" "0000541090" "00025480" "50" "389" "0" "389" "0" "c.389G>T" "r.(?)" "p.(Arg130Ile)" "" "0000612695" "00018788" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Asp45=)" "" "0000612695" "00025480" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Asp60=)" "" "0000624796" "00018788" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Gly86Arg)" "" "0000624796" "00025480" "50" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Gly101Arg)" "" "0000653489" "00018788" "90" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Trp211Arg)" "6" "0000653495" "00018788" "90" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Trp211Arg)" "6" "0000653497" "00018788" "70" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "6" "0000653498" "00018788" "50" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Val187Ala)" "6" "0000653498" "00025480" "50" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Val202Ala)" "6" "0000653499" "00018788" "90" "622" "0" "622" "0" "c.622T>C" "r.(?)" "p.(Tyr208His)" "6" "0000653499" "00025480" "90" "667" "0" "667" "0" "c.667T>C" "r.(?)" "p.(Tyr223His)" "6" "0000722957" "00018788" "30" "371" "-19" "371" "-19" "c.371-19C>T" "r.(=)" "p.(=)" "" "0000722957" "00025480" "30" "416" "-19" "416" "-19" "c.416-19C>T" "r.(=)" "p.(=)" "" "0000889268" "00018788" "10" "-24" "19" "-24" "19" "c.-24+19A>G" "r.(=)" "p.(=)" "" "0000889268" "00025480" "10" "-38" "-174" "-38" "-174" "c.-38-174A>G" "r.(=)" "p.(=)" "" "0000965872" "00018788" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "" "0000965872" "00025480" "50" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" "" "0001025773" "00018788" "50" "-23" "-168" "-23" "-168" "c.-23-168G>A" "r.(=)" "p.(=)" "" "0001025773" "00025480" "50" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Val6Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000266463" "0000624796" "0000296780" "0000653489" "0000296786" "0000653495" "0000296788" "0000653497" "0000296789" "0000653498" "0000296792" "0000653499"