### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRSS16)
# 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}}"
"PRSS16"	"protease, serine, 16 (thymus)"	"6"	"p21"	"unknown"	"NC_000006.11"	"UD_132438729884"	""	"http://www.LOVD.nl/PRSS16"	""	"1"	"9480"	"10279"	"607169"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/PRSS16_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-24 12:14:56"	"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}}"
"00016961"	"PRSS16"	"protease, serine, 16 (thymus)"	"001"	"NM_005865.3"	""	"NP_005856.1"	""	""	""	"-15"	"2850"	"1545"	"27215502"	"27224399"	""	"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}}"
"04167"	"SCA"	"ataxia, spinocerebellar (SCA)"	""	""	""	""	""	"00006"	"2014-12-24 11:54:32"	"00006"	"2015-12-08 23:59:30"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00027179"	""	""	""	"11"	""	"00006"	"{PMID:Di Gregorio 2014:25065913}"	"4-generation family, 11 affecteds (5F, 6M)"	"-"	"no"	"Italy"	""	"0"	""	""	""	""
"00447962"	""	""	""	"4"	""	"00006"	"{PMID:Chia 2018:29784083}"	"2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs"	"M"	"yes"	"Jordan"	""	"0"	""	""	""	"FamPatII1"
"00447963"	""	""	"00447962"	"1"	""	"00006"	"{PMID:Chia 2018:29784083}"	"affected sister"	"F"	"yes"	"Jordan"	""	"0"	""	""	""	"FamPatII4"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00027179"	"04167"
"00447962"	"05611"
"00447963"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04167, 05611
## Count = 3
"{{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}}"
"0000023250"	"04167"	"00027179"	"00006"	"Familial, autosomal dominant"	""	"see paper; pure form of cerebellar ataxia"	""	""	""	""	""	""	""	""	""
"0000337152"	"05611"	"00447962"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies"	""	""	""	""	""	""	""	"MRT63"	"intellectual disability"
"0000337153"	"05611"	"00447963"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies"	""	""	""	""	""	""	""	"MRT63"	"intellectual disability"


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000027183"	"00027179"	"1"	"00006"	"00006"	"2014-12-24 11:55:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000449535"	"00447962"	"1"	"00006"	"00006"	"2024-02-05 12:59:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000449536"	"00447963"	"1"	"00006"	"00006"	"2024-02-05 12:59:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000027183"	"ELOVL5"


## 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/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}}"
"0000050322"	"1"	"30"	"6"	"27219632"	"27219632"	"subst"	"0"	"00006"	"PRSS16_000001"	"g.27219632C>G"	""	"{PMID:Di Gregorio 2014:25065913}"	""	""	"not conserved, not causative"	"Germline"	""	""	"0"	""	""	"g.27251853C>G"	""	"likely benign"	""
"0000677712"	"0"	"30"	"6"	"27219764"	"27219764"	"subst"	"0"	"01804"	"PRSS16_000002"	"g.27219764G>T"	""	""	""	"PRSS16(NM_005865.3):c.953G>T (p.(Gly318Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000959882"	"3"	"50"	"6"	"27215709"	"27215709"	"subst"	"0.000578461"	"00006"	"PRSS16_000003"	"g.27215709G>A"	""	"{PMID:Chia 2018:29784083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27247930G>A"	""	"likely benign"	""
"0000959955"	"3"	"50"	"6"	"27215709"	"27215709"	"subst"	"0.000578461"	"00006"	"PRSS16_000003"	"g.27215709G>A"	""	"{PMID:Chia 2018:29784083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27247930G>A"	""	"likely benign"	""
"0000995618"	"0"	"30"	"6"	"27222897"	"27222897"	"subst"	"4.06266E-6"	"01804"	"PRSS16_000004"	"g.27222897G>A"	""	""	""	"PRSS16(NM_005865.3):c.1463G>A (p.(Arg488His))"	"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 PRSS16
## Count = 5
"{{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}}"
"0000050322"	"00016961"	"30"	"821"	"0"	"821"	"0"	"c.821C>G"	"r.(?)"	"p.(Pro274Arg)"	"8"
"0000677712"	"00016961"	"30"	"953"	"0"	"953"	"0"	"c.953G>T"	"r.(?)"	"p.(Gly318Val)"	""
"0000959882"	"00016961"	"50"	"119"	"0"	"119"	"0"	"c.119G>A"	"r.(?)"	"p.(Ser40Asn)"	""
"0000959955"	"00016961"	"50"	"119"	"0"	"119"	"0"	"c.119G>A"	"r.(?)"	"p.(Ser40Asn)"	""
"0000995618"	"00016961"	"30"	"1463"	"0"	"1463"	"0"	"c.1463G>A"	"r.(?)"	"p.(Arg488His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000027183"	"0000050322"
"0000449535"	"0000959882"
"0000449536"	"0000959955"