### 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" "00006" "2026-03-06 17:26:39"
## 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 = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" ""
"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 = 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}}"
"00473307" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam202959Pat545"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00473307" "05121"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05121, 06231
## Count = 1
"{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000358102" "05121" "00473307" "00006" "Familial, autosomal recessive" "39y" "sporadic case, walking delay, lower muscle weakness , waddling gait , positive Gower’s sign, chronic non-irritable myopathy reported in EMG, elevated CPK, fatty degeneration in vastus lateralis, medialis and intermedius in favor of myopathy reported in muscle MRI, negative Pompe testing," "" "" "" "" "" "" "" "muscular dystrophy"
## 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}}"
"0000474976" "00473307" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## 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 = 10
"{{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" ""
"0001069374" "3" "70" "14" "105207556" "105207556" "subst" "2.09698E-5" "00006" "ADSSL1_000009" "g.105207556G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3_sup, PP5" "Germline" "" "" "0" "" "" "g.104741219G>A" "SCV006075385.1" "likely pathogenic" "ACMG"
## 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 = 10
"{{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)" ""
"0001069374" "00002189" "70" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Ala257Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000474976" "0001069374"