### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GALNS) # 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}}" "GALNS" "galactosamine (N-acetyl)-6-sulfatase" "16" "q24.3" "unknown" "NG_008667.1" "UD_144416812860" "" "" "" "1" "4122" "2588" "612222" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-30 09:35:37" "" "" "00006" "2021-09-12 09:22:34" ## 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}}" "00000048" "GALNS" "transcript variant 1" "003" "NM_000512.4" "" "NP_000503.1" "" "" "" "-89" "2274" "1569" "88856966" "88813734" "00001" "2020-11-30 09:36:45" "" "" ## 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}}" "00032" "MPS IVA" "Mucopolysaccharidosis IVA" "" "" "" "" "" "00001" "2020-11-30 09:35:10" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GALNS" "00032" ## 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}}" "00000198" "" "" "" "1" "" "00002" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00000198" "00032" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00032 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000095" "00032" "00000198" "00002" "" "Familial, autosomal recessive" ## 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}}" "0000000213" "00000198" "1" "00002" "00002" "2020-11-30 09:45:24" "" "" "PCR;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000000213" "GALNS" ## 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 = 18 "{{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}}" "0000000994" "0" "90" "16" "88856767" "88856772" "del" "0" "00002" "GALNS_000001" "g.88856767_88856772delGAGCAG" "4/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000000995" "0" "50" "16" "88842732" "88842732" "subst" "0" "00002" "GALNS_000002" "g.88842732T>C" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}, {dbSNP:rs398123435}, {ClinVar:93173}" "" "" "rs398123435" "0000000996" "0" "90" "16" "88842715" "88842715" "subst" "0" "00002" "GALNS_000003" "g.88842715A>G" "2/34" "{PMID:Huey Yin Leong et al. (2019):31200731}, {ClinVar:873059}" "" "" "" "0000000997" "0" "90" "16" "88841068" "88841068" "subst" "0" "00002" "GALNS_000004" "g.88841068C>T" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}, {ClinVar:928751}" "" "" "" "0000000998" "0" "90" "16" "88841016" "88841016" "subst" "0" "00002" "GALNS_000005" "g.88841016T>G" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000000999" "0" "90" "16" "88837725" "88837725" "subst" "0" "00002" "GALNS_000006" "g.88837725C>T" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}, {dbSNP:rs398123438}, {ClinVar:93178}" "" "" "rs398123438" "0000001000" "0" "90" "16" "88837711" "88837715" "del" "0" "00002" "GALNS_000007" "g.88837711_88837715delCCACT" "2/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001001" "0" "90" "16" "88837686" "88837686" "subst" "0" "00002" "GALNS_000008" "g.88837686C>A" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001002" "0" "90" "16" "88837685" "88837685" "subst" "0" "00002" "GALNS_000009" "g.88837685C>A" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001003" "0" "90" "16" "88837676" "88837676" "subst" "0" "00002" "GALNS_000010" "g.88837676T>G" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001004" "0" "90" "16" "88837637" "88837637" "subst" "0" "00002" "GALNS_000011" "g.88837637C>T" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001005" "0" "90" "16" "88835836" "88835836" "subst" "0" "00002" "GALNS_000012" "g.88835836A>G" "3/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001006" "0" "90" "16" "88835299" "88835299" "subst" "0" "00002" "GALNS_000013" "g.88835299A>G" "2/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001007" "0" "90" "16" "88832050" "88832050" "subst" "0" "00002" "GALNS_000014" "g.88832050C>T" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}" "" "" "" "0000001008" "0" "90" "16" "88832047" "88832047" "subst" "0" "00002" "GALNS_000015" "g.88832047A>C" "4/34" "{PMID:Huey Yin Leong et al. (2019):31200731}, {dbSNP:rs746756997}, {ClinVar:199031}" "" "" "rs746756997" "0000001009" "0" "50" "16" "88832042" "88832042" "subst" "0" "00002" "GALNS_000016" "g.88832042C>T" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}, {dbSNP:rs761539025}, {ClinVar:194338}" "" "" "rs761539025" "0000001010" "0" "90" "16" "88822588" "88822588" "subst" "0" "00002" "GALNS_000017" "g.88822588C>T" "2/34" "{PMID:Huey Yin Leong et al. (2019):31200731}, {dbSNP:rs773746427}, {ClinVar:645753}" "" "" "rs773746427" "0000001011" "0" "50" "16" "88814485" "88814485" "subst" "0" "00002" "GALNS_000018" "g.88814485A>G" "1/34" "{PMID:Huey Yin Leong et al. (2019):31200731}{dbSNP:rs1583561006}" "" "" "rs1583561006" ## 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 GALNS ## Count = 18 "{{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/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000000994" "00000048" "90" "106" "0" "111" "0" "c.106_111delCTGCTC" "1" "p.(Leu36_Leu37del)" "r.(?)" "" "" "" "0000000995" "00000048" "50" "218" "0" "218" "0" "c.218A>G" "2" "p.(Tyr73Cys)" "r.(?)" "" "" "{ClinVar:93173}" "0000000996" "00000048" "90" "235" "0" "235" "0" "c.235T>C" "2" "p.(Cys79Arg)" "r.(?)" "" "" "" "0000000997" "00000048" "90" "346" "0" "346" "0" "c.346G>A" "4" "p.(Gly116Ser)" "r.(?)" "" "" "" "0000000998" "00000048" "90" "398" "0" "398" "0" "c.398A>C" "4" "p.(Tyr133Ser)" "r.(?)" "" "" "" "0000000999" "00000048" "90" "463" "0" "463" "0" "c.463G>A" "5" "p.(Gly155Arg)" "r.(?)" "" "" "{ClinVar:93178}" "0000001000" "00000048" "90" "473" "0" "477" "0" "c.473_477delAGTGG" "5" "p.(Glu158Valfs*12)" "r.(?)" "" "" "" "0000001001" "00000048" "90" "502" "0" "502" "0" "c.502G>T" "5" "p.(Gly168*)" "r.(?)" "" "" "" "0000001002" "00000048" "90" "503" "0" "503" "0" "c.503G>T" "5" "p.(Gly168Val)" "r.(?)" "" "" "" "0000001003" "00000048" "90" "512" "0" "512" "0" "c.512A>C" "5" "p.(Asp171Ala)" "r.(?)" "" "" "" "0000001004" "00000048" "90" "551" "0" "551" "0" "c.551G>A" "5" "p.(Trp184*)" "r.(?)" "" "" "" "0000001005" "00000048" "90" "647" "0" "647" "0" "c.647T>C" "7" "p.(Phe216Ser)" "r.(?)" "" "" "" "0000001006" "00000048" "90" "812" "0" "812" "0" "c.812T>C" "8" "p.(Leu271Pro)" "r.(?)" "" "" "" "0000001007" "00000048" "90" "950" "0" "950" "0" "c.950G>A" "9" "p.(Gly317Glu)" "r.(?)" "" "" "" "0000001008" "00000048" "90" "953" "0" "953" "0" "c.953T>G" "9" "p.(Met318Arg)" "r.(?)" "" "" "{ClinVar:199031}" "0000001009" "00000048" "50" "958" "0" "958" "0" "c.958G>A" "9" "p.(Glu320Lys)" "r.(?)" "" "" "{ClinVar:194338}" "0000001010" "00000048" "90" "1364" "1" "1364" "1" "c.1364+1G>A" "2i" "p.?" "r.spl?" "" "" "{ClinVar:645753}" "0000001011" "00000048" "50" "1523" "0" "1523" "0" "c.1523T>C" "14" "p.(Leu508Pro)" "r.(?)" "" "" "{ClinVar:667235}" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000000213" "0000000994" "0000000213" "0000000995" "0000000213" "0000000996" "0000000213" "0000000997" "0000000213" "0000000998" "0000000213" "0000000999" "0000000213" "0000001000" "0000000213" "0000001001" "0000000213" "0000001002" "0000000213" "0000001003" "0000000213" "0000001004" "0000000213" "0000001005" "0000000213" "0000001006" "0000000213" "0000001007" "0000000213" "0000001008" "0000000213" "0000001009" "0000000213" "0000001010" "0000000213" "0000001011"