### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ARSA)
# 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}}"
"ARSA"	"arylsulfatase A"	"22"	"q13.33"	"unknown"	"NG_009260.2"	"UD_144408241550"	""	""	""	"1"	"713"	"410"	"607574"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-11 09:25:42"	""	""	"00005"	"2021-08-01 13:22:15"


## Transcripts ## Do not remove or alter this header ##
## Count = 9
"{{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}}"
"00000386"	"ARSA"	"transcript variant 1"	"005"	"NM_000487.5"	""	"NP_000478.3"	""	""	""	"-394"	"3921"	"1530"	"50628173"	"50622754"	"00001"	"2021-03-11 09:25:42"	""	""
"00000387"	"ARSA"	"transcript variant 2"	"004"	"NM_001085425.2"	""	"NP_001078894.2"	""	""	""	"-289"	"3921"	"1530"	"50628173"	"50622754"	"00001"	"2021-03-11 09:25:42"	""	""
"00000388"	"ARSA"	"transcript variant 3"	"003"	"NM_001085426.2"	""	"NP_001078895.2"	""	""	""	"-241"	"3921"	"1530"	"50628173"	"50622754"	"00001"	"2021-03-11 09:25:42"	""	""
"00000389"	"ARSA"	"transcript variant 4"	"001"	"NM_001085427.2"	""	"NP_001078896.2"	""	""	""	"-196"	"3921"	"1530"	"50628173"	"50622754"	"00001"	"2021-03-11 09:25:42"	""	""
"00000390"	"ARSA"	"transcript variant 5"	"002"	"NM_001085428.2"	""	"NP_001078897.1"	""	""	""	"-262"	"3663"	"1272"	"50628173"	"50622754"	"00001"	"2021-03-11 09:25:42"	""	""
"00000391"	"ARSA"	"transcript variant X1"	"008"	"XM_017028800.1"	""	"XP_016884289.1"	""	""	""	"-213"	"1768"	"1644"	"50628145"	"50625021"	"00001"	"2021-03-11 09:25:42"	""	""
"00000392"	"ARSA"	"transcript variant X2"	"006"	"XM_011530690.2"	""	"XP_011528992.1"	""	""	""	"-211"	"1396"	"1272"	"50628167"	"50625021"	"00001"	"2021-03-11 09:25:42"	""	""
"00000393"	"ARSA"	"transcript variant X3"	"009"	"XM_011530691.3"	""	"XP_011528993.1"	""	""	""	"-333"	"1551"	"1164"	"50628112"	"50625021"	"00001"	"2021-03-11 09:25:42"	""	""
"00000394"	"ARSA"	"transcript variant X4"	"007"	"XM_024452241.1"	""	"XP_024308009.1"	""	""	""	"-213"	"1551"	"1164"	"50628145"	"50625021"	"00001"	"2021-03-11 09:25:42"	""	""


## 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}}"
"00085"	"MLD"	"Metachromatic Leukodystrophy"	""	"250100"	""	""	""	"00001"	"2021-03-11 09:24:55"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ARSA"	"00085"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00000505"	""	""	""	"1"	""	"00004"	"{PMID:Barry Eng et al.(2003):14517960}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000505"	"00085"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00085
## 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}}"
"0000000552"	"00000505"	"1"	"00004"	"00004"	"2021-03-11 10:35:27"	""	""	"SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000552"	"ARSA"


## 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 = 2
"{{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}}"
"0000002613"	"0"	"90"	"22"	"50626153"	"50626153"	"subst"	"0"	"00004"	"ARSA_000001"	"g.50626153C>T"	""	"{PMID:Barry Eng et al.(2003):14517960}"	""	""	"rs754722529"
"0000002614"	"0"	"90"	"22"	"50626211"	"50626211"	"subst"	"0"	"00004"	"ARSA_000002"	"g.50626211A>G"	""	"{PMID:Barry Eng et al.(2003):14517960}"	""	""	"rs199476379"


## 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 ARSA
## Count = 2
"{{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}}"
"0000002613"	"00000386"	"90"	"979"	"1"	"979"	"1"	"c.979+1G>A"	""	"p.?"	"r.spl?"	"c.973+1G>A"	"Likely Pathogenic"
"0000002614"	"00000386"	"90"	"922"	"0"	"922"	"0"	"c.922T>C"	""	"p.(Tyr308His)"	"r.(?)"	"c.916T>C"	"Uncertain significance"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000000552"	"0000002613"
"0000000552"	"0000002614"