### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NPC1L1)
# 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}}"
"NPC1L1"	"NPC1-like 1"	"7"	"p13"	"unknown"	"NC_000007.13"	"UD_132085284470"	""	"http://www.LOVD.nl/NPC1L1"	""	"1"	"7898"	"29881"	"608010"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/NPC1L1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-12 19:12:53"	"00000"	"2023-04-16 21:50:28"


## 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}}"
"00014723"	"NPC1L1"	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1, transcript variant 1"	"002"	"NM_013389.2"	""	"NP_037521.2"	""	""	""	"-56"	"4992"	"4080"	"44580914"	"44552134"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"06756"	"LDLCQ7"	"[Ezetimibe, nonresponse to]"	""	"617966"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"NPC1L1"	"06756"


## 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}}"
"00294467"	""	""	""	"8"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00294467"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 06756
## Count = 0


## 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}}"
"0000295635"	"00294467"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## 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 = 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}}"
"0000304422"	"0"	"30"	"7"	"44579171"	"44579171"	"subst"	"0.000378049"	"01943"	"NPC1L1_000001"	"g.44579171G>A"	""	""	""	"NPC1L1(NM_013389.2):c.825C>T (p.T275=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44539572G>A"	""	"likely benign"	""
"0000532072"	"0"	"30"	"7"	"44561674"	"44561674"	"subst"	"8.93641E-5"	"01943"	"NPC1L1_000002"	"g.44561674C>T"	""	""	""	"NPC1L1(NM_013389.2):c.2805G>A (p.Q935=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44522075C>T"	""	"likely benign"	""
"0000532073"	"0"	"30"	"7"	"44574216"	"44574216"	"subst"	"0"	"01943"	"NPC1L1_000003"	"g.44574216C>T"	""	""	""	"NPC1L1(NM_013389.2):c.1996G>A (p.A666T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44534617C>T"	""	"likely benign"	""
"0000532074"	"0"	"30"	"7"	"44578991"	"44578991"	"subst"	"8.12632E-6"	"01943"	"NPC1L1_000004"	"g.44578991G>T"	""	""	""	"NPC1L1(NM_013389.2):c.1005C>A (p.T335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44539392G>T"	""	"likely benign"	""
"0000652324"	"1"	"30"	"7"	"44555699"	"44555699"	"subst"	"0.00786061"	"03575"	"NPC1L1_000005"	"g.44555699A>T"	"8/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"8 heterozygous, no homozygous; {DB:CLININrs52815063}"	"Germline"	""	"rs52815063"	"0"	""	""	"g.44516100A>T"	""	"likely benign"	""
"0000655834"	"0"	"30"	"7"	"44579062"	"44579062"	"subst"	"0.000902028"	"02326"	"NPC1L1_000006"	"g.44579062C>G"	""	""	""	"NPC1L1(NM_013389.3):c.934G>C (p.D312H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44539463C>G"	""	"likely benign"	""
"0000721465"	"0"	"30"	"7"	"44558282"	"44558283"	"dup"	"0"	"02326"	"NPC1L1_000007"	"g.44558282_44558283dup"	""	""	""	"NPC1L1(NM_013389.3):c.3137-6_3137-5dupTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924727"	"0"	"30"	"7"	"44553119"	"44553119"	"subst"	"0"	"02326"	"NPC1L1_000008"	"g.44553119T>C"	""	""	""	"NPC1L1(NM_013389.3):c.4007A>G (p.H1336R)"	"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 NPC1L1
## 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}}"
"0000304422"	"00014723"	"30"	"825"	"0"	"825"	"0"	"c.825C>T"	"r.(?)"	"p.(Thr275=)"	""
"0000532072"	"00014723"	"30"	"2805"	"0"	"2805"	"0"	"c.2805G>A"	"r.(?)"	"p.(Gln935=)"	""
"0000532073"	"00014723"	"30"	"1996"	"0"	"1996"	"0"	"c.1996G>A"	"r.(?)"	"p.(Ala666Thr)"	""
"0000532074"	"00014723"	"30"	"1005"	"0"	"1005"	"0"	"c.1005C>A"	"r.(?)"	"p.(Thr335=)"	""
"0000652324"	"00014723"	"30"	"3698"	"0"	"3698"	"0"	"c.3698T>A"	"r.(?)"	"p.(Ile1233Asn)"	""
"0000655834"	"00014723"	"30"	"934"	"0"	"934"	"0"	"c.934G>C"	"r.(?)"	"p.(Asp312His)"	""
"0000721465"	"00014723"	"30"	"3137"	"-5"	"3137"	"-4"	"c.3137-5_3137-4dup"	"r.spl?"	"p.?"	""
"0000924727"	"00014723"	"30"	"4007"	"0"	"4007"	"0"	"c.4007A>G"	"r.(?)"	"p.(His1336Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000295635"	"0000652324"