### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PSEN1)
# 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}}"
"PSEN1"	"presenilin 1"	"14"	"q24.2"	"unknown"	"NG_007386.2"	"UD_144432508608"	""	""	""	"1"	"9508"	"5663"	"104311"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-09 00:00:00"	"00001"	"2021-03-09 14:53:49"	"00006"	"2021-09-09 15:02:29"


## Transcripts ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00000356"	"PSEN1"	"transcript variant 1"	"001"	"NM_000021.3"	""	"NP_000012.1"	""	""	""	"-284"	"5806"	"1404"	"73136435"	"73223691"	"00001"	"2021-03-09 14:36:27"	""	""
"00000357"	"PSEN1"	"transcript variant 2"	"002"	"NM_007318.2"	""	"NP_015557.2"	""	""	""	"-284"	"5794"	"1392"	"73136435"	"73223691"	"00001"	"2021-03-09 14:36:27"	""	""
"00000358"	"PSEN1"	"transcript variant X1"	"004"	"XM_005267864.3"	""	"XP_005267921.1"	""	""	""	"-270"	"2518"	"1404"	"73136445"	"73220403"	"00001"	"2021-03-09 14:36:27"	""	""
"00000359"	"PSEN1"	"transcript variant X2"	"005"	"XM_011536972.2"	""	"XP_011535274.1"	""	""	""	"-540"	"2518"	"1404"	"73136819"	"73220403"	"00001"	"2021-03-09 14:36:27"	""	""
"00000360"	"PSEN1"	"transcript variant X3"	"003"	"XM_005267866.2"	""	"XP_005267923.1"	""	""	""	"-279"	"2506"	"1392"	"73136436"	"73220403"	"00001"	"2021-03-09 14:36:27"	""	""
"00000361"	"PSEN1"	"transcript variant X4"	"007"	"XM_011536974.2"	""	"XP_011535276.1"	""	""	""	"-176"	"2506"	"1392"	"73138112"	"73220403"	"00001"	"2021-03-09 14:36:27"	""	""
"00000362"	"PSEN1"	"transcript variant X5"	"006"	"XM_011536973.2"	""	"XP_011535275.1"	""	""	""	"-540"	"2506"	"1392"	"73136819"	"73220403"	"00001"	"2021-03-09 14:36:27"	""	""


## 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}}"
"00081"	"EOAD"	"Early Onset Alzheimer disease"	"AD"	""	"brain"	""	""	"00001"	"2021-03-09 14:26:45"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PSEN1"	"00081"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000538"	""	""	""	"1"	""	"00004"	"{PMID:Vo Van Giau et al.(2019):31557888}"	"age of onset: 40"	""	"Malaysia"	""	""	"M"
"00000539"	""	""	""	"1"	""	"00004"	"{PMID:Vo Van Giau et al.(2019):31557888}"	"age of onset: 40"	""	"Malaysia"	""	""	"F"
"00000540"	""	""	""	"1"	""	"00004"	"{PMID:Vo Van Giau et al.(2019):31557888}"	"age of onset: 48"	""	"Malaysia"	""	""	"M"
"00000541"	""	""	""	"1"	""	"00004"	"{PMID:Vo Van Giau et al.(2019):31557888}"	"Age of onset: 55"	""	"Malaysia"	""	""	"F"
"00000542"	""	""	""	"1"	""	"00004"	"{PMID:Vo Van Giau et al.(2019):31557888}"	"Age of onset: 57"	""	"Malaysia"	""	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00000538"	"00081"
"00000539"	"00081"
"00000540"	"00081"
"00000541"	"00081"
"00000542"	"00081"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00081
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000182"	"00081"	"00000538"	"00004"	"disease age of onset: 40, presented a symptomatic change in behavior and personality, such as apathy and withdrawal"	""
"0000000183"	"00081"	"00000539"	"00004"	"disease age of onset: 40, presented a symptomatic change in behavior and personality, such as apathy and withdrawal"	""
"0000000184"	"00081"	"00000540"	"00004"	"disease age of onset: 48, presented a symptomatic change in behavior and personality, such as apathy and withdrawal"	""
"0000000185"	"00081"	"00000541"	"00004"	"disease age of onset: 55, presented a symptomatic change in behavior and personality, such as apathy and withdrawal"	""
"0000000186"	"00081"	"00000542"	"00004"	"disease age of onset: 57, presented a symptomatic change in behavior and personality, such as apathy and withdrawal"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000586"	"00000538"	"1"	"00004"	"00004"	"2021-03-23 15:14:12"	""	""	"SEQ"	"DNA"
"0000000587"	"00000539"	"1"	"00004"	"00004"	"2021-03-23 15:26:06"	""	""	"SEQ"	"DNA"
"0000000588"	"00000540"	"1"	"00004"	"00004"	"2021-03-23 15:29:19"	""	""	"SEQ"	"DNA"
"0000000589"	"00000541"	"1"	"00004"	"00004"	"2021-03-23 15:41:13"	""	""	"SEQ"	"DNA"
"0000000590"	"00000542"	"1"	"00004"	"00004"	"2021-03-23 15:43:53"	""	""	"SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000000586"	"PSEN1"
"0000000587"	"PSEN1"
"0000000588"	"PSEN1"
"0000000589"	"PSEN1"
"0000000590"	"PSEN1"


## 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 = 5
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000002453"	"0"	"90"	"14"	"73170995"	"73170995"	"subst"	"0"	"00004"	"PSEN1_000001"	"g.73170995G>T"	""	"{PMID:Vo Van Giau et al.(2019):31557888}"	""	""	"rs63750601"
"0000002454"	"0"	"90"	"14"	"73170995"	"73170995"	"subst"	"0"	"00004"	"PSEN1_000001"	"g.73170995G>T"	""	"{PMID:Vo Van Giau et al.(2019):31557888}"	""	""	"rs63750601"
"0000002455"	"0"	"90"	"14"	"73198099"	"73198099"	"subst"	"0"	"00004"	"PSEN1_000002"	"g.73198099G>A"	""	"{PMID:Vo Van Giau et al.(2019):31557888}"	""	""	"rs80190110"
"0000002456"	"0"	"90"	"14"	"73198099"	"73198099"	"subst"	"0"	"00004"	"PSEN1_000002"	"g.73198099G>A"	""	"{PMID:Vo Van Giau et al.(2019):31557888}"	""	""	"rs80190110"
"0000002457"	"0"	"90"	"14"	"73198099"	"73198099"	"subst"	"0"	"00004"	"PSEN1_000002"	"g.73198099G>A"	""	"{PMID:Vo Van Giau et al.(2019):31557888}"	""	""	"rs80190110"


## 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 PSEN1
## Count = 8
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000002453"	"00000356"	"90"	"286"	"0"	"286"	"0"	"c.286G>T"	"4"	"p.(Val96Phe)"	"r.(?)"	""	"Known pathogenic mutation (EOAD)"
"0000002454"	"00000356"	"90"	"286"	"0"	"286"	"0"	"c.286G>T"	""	"p.(Val96Phe)"	"r.(?)"	""	"Known pathogenic mutation (EOAD)"
"0000002455"	"00000356"	"90"	"838"	"0"	"838"	"0"	"c.838G>A"	"8"	"p.(Glu280Lys)"	"r.(?)"	""	"Novel mutation, may be involved in EOAD"
"0000002455"	"00000357"	"90"	"826"	"0"	"826"	"0"	"c.826G>A"	"8"	"p.(Glu276Lys)"	"r.(?)"	""	"Novel mutation, may be involved in EOAD"
"0000002456"	"00000356"	"90"	"838"	"0"	"838"	"0"	"c.838G>A"	"8"	"p.(Glu280Lys)"	"r.(?)"	""	"Novel mutation, may be involved in EOAD"
"0000002456"	"00000357"	"90"	"826"	"0"	"826"	"0"	"c.826G>A"	"8"	"p.(Glu276Lys)"	"r.(?)"	""	"Novel mutation, may be involved in EOAD"
"0000002457"	"00000356"	"90"	"838"	"0"	"838"	"0"	"c.838G>A"	""	"p.(Glu280Lys)"	"r.(?)"	""	"Novel mutation, may be involved in EOAD"
"0000002457"	"00000357"	"90"	"826"	"0"	"826"	"0"	"c.826G>A"	""	"p.(Glu276Lys)"	"r.(?)"	""	"Novel mutation, may be involved in EOAD"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000000586"	"0000002453"
"0000000587"	"0000002454"
"0000000588"	"0000002455"
"0000000589"	"0000002456"
"0000000590"	"0000002457"