### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ADSSL1)
# 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}}"
"ADSSL1" "adenylosuccinate synthase like 1" "14" "q32.33" "unknown" "NC_000014.8" "UD_132319840576" "" "https://www.LOVD.nl/ADSS1" "" "1" "20093" "122622" "612498" "1" "1" "1" "1" "NOTE: gene name changed from ADSSL1 to ADSS1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from ADSSL1 to ADSS1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 13:24:57" "00000" "2025-05-05 21:14:00"
## 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}}"
"00002189" "ADSSL1" "transcript variant 2" "001" "NM_152328.3" "" "NP_689541.1" "" "" "" "-74" "1681" "1374" "105190534" "105213647" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"06231" "MPD5" "Myopathy, distal, 5" "AR" "617030" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"ADSSL1" "06231"
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 06231
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 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 = 9
"{{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}}"
"0000323866" "0" "50" "14" "105207039" "105207039" "subst" "0.000617294" "01804" "ADSSL1_000001" "g.105207039C>T" "" "" "" "ADSSL1(NM_152328.3):c.578C>T (p.(Ser193Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104740702C>T" "" "VUS" ""
"0000323867" "0" "50" "14" "105207251" "105207251" "subst" "0" "01804" "ADSSL1_000002" "g.105207251G>T" "" "" "" "ADSSL1(NM_152328.3):c.660G>T (p.(Arg220Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104740914G>T" "" "VUS" ""
"0000336955" "0" "10" "14" "105185567" "105185567" "subst" "0" "02327" "INF2_000055" "g.105185567G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104719230G>A" "" "benign" ""
"0000336956" "0" "10" "14" "105185666" "105185666" "subst" "0" "02327" "INF2_000056" "g.105185666G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104719329G>T" "" "benign" ""
"0000679882" "0" "30" "14" "105211129" "105211129" "subst" "0.000634296" "02326" "ADSSL1_000004" "g.105211129G>A" "" "" "" "ADSS1(NM_199165.2):c.1203-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000891663" "0" "10" "14" "105201380" "105201380" "subst" "0.00101223" "02326" "ADSSL1_000005" "g.105201380G>A" "" "" "" "ADSS1(NM_199165.2):c.345G>A (p.T115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001000720" "0" "30" "14" "105196402" "105196402" "subst" "0.00403748" "01804" "ADSSL1_000006" "g.105196402C>G" "" "" "" "ADSSL1(NM_199165.1):c.173C>G (p.(Pro58Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039801" "0" "30" "14" "105205720" "105205720" "subst" "4.4762E-5" "01804" "ADSSL1_000007" "g.105205720G>A" "" "" "" "ADSSL1(NM_152328.5):c.409+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039802" "0" "50" "14" "105206110" "105206110" "subst" "0.000223546" "01804" "ADSSL1_000008" "g.105206110G>A" "" "" "" "ADSSL1(NM_152328.5):c.433G>A (p.(Asp145Asn))" "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 ADSSL1
## Count = 9
"{{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}}"
"0000323866" "00002189" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ser193Phe)" ""
"0000323867" "00002189" "50" "660" "0" "660" "0" "c.660G>T" "r.(?)" "p.(Arg220Ser)" ""
"0000336955" "00002189" "10" "-5041" "0" "-5041" "0" "c.-5041G>A" "r.(?)" "p.(=)" ""
"0000336956" "00002189" "10" "-4942" "0" "-4942" "0" "c.-4942G>T" "r.(?)" "p.(=)" ""
"0000679882" "00002189" "30" "1074" "-20" "1074" "-20" "c.1074-20G>A" "r.(=)" "p.(=)" ""
"0000891663" "00002189" "10" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Thr72=)" ""
"0001000720" "00002189" "30" "193" "-4955" "193" "-4955" "c.193-4955C>G" "r.(=)" "p.(=)" ""
"0001039801" "00002189" "30" "409" "5" "409" "5" "c.409+5G>A" "r.spl?" "p.?" ""
"0001039802" "00002189" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Asp145Asn)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0