### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC26A8) # 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}}" "SLC26A8" "solute carrier family 26, member 8" "6" "p21" "unknown" "NC_000006.11" "UD_132438817987" "" "https://www.LOVD.nl/SLC26A8" "" "1" "14468" "116369" "608480" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC26A8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-31 13:01:59" "00006" "2022-01-31 13:21:16" ## 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}}" "00025655" "SLC26A8" "solute carrier family 26 (anion exchanger), member 8, transcript variant 1" "001" "NM_052961.3" "" "NP_443193.1" "" "" "" "-135" "3299" "2913" "35992413" "35911291" "00006" "2021-11-10 11:27:30" "" "" ## 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}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "02602" "SPGF3" "spermatogenic failure, type 3 (SPGF-3)" "AD" "606766" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC26A8" "02602" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00390051" "" "" "" "1" "" "04198" "{PMID:Gao 2021:34923715}, {DOI:Gao 2021:10.1002/humu.24322}" "" "" "no" "China" "" "" "" "" "Han Chinese" "" "00390070" "" "" "" "1" "" "04198" "{PMID:Gao 2021:34923715}, {DOI:Gao 2021:10.1002/humu.24322}" "" "M" "" "China" "" "" "" "" "Han Chinese" "" "00401301" "" "" "" "1" "" "04253" "" "" "M" "no" "China" "" "" "" "" "" "" "00401302" "" "" "" "1" "" "04253" "" "" "M" "no" "China" "" "" "" "" "" "" "00401303" "" "" "" "1" "" "04253" "" "" "M" "no" "China" "" "" "" "" "" "" "00401508" "" "" "" "1" "" "00006" "{PMID:Dirami 2013:23582645}" "2-generation family, 1 affected, parents not available" "M" "" "France" "" "0" "" "" "" "PatX1" "00401510" "" "" "" "1" "" "00006" "{PMID:Dirami 2013:23582645}" "2-generation family, 1 affected, parents not available" "M" "" "France" "" "0" "" "" "" "PatX2" "00401511" "" "" "" "1" "" "00006" "{PMID:Dirami 2013:23582645}" "2-generation family, 1 affected, parents not available" "M" "" "France" "" "0" "" "" "" "PatX3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00390051" "02602" "00390070" "02602" "00401301" "00201" "00401302" "00201" "00401303" "00201" "00401508" "00201" "00401510" "00201" "00401511" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 02602 ## 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}}" "0000294314" "00201" "00401508" "00006" "Unknown" "" "see paper; ..., asthenozoospermia" "" "" "" "" "" "" "" "SPGF3" "infertility" "0000294315" "00201" "00401510" "00006" "Unknown" "" "see paper; ..., asthenozoospermia" "" "" "" "" "" "" "" "SPGF3" "infertility" "0000294316" "00201" "00401511" "00006" "Unknown" "" "see paper; ..., asthenozoospermia" "" "" "" "" "" "" "" "SPGF3" "infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000391292" "00390051" "1" "04198" "04198" "2021-11-09 14:09:27" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood" "" "0000391311" "00390070" "1" "04198" "04198" "2021-11-09 17:15:58" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood" "WES" "0000402545" "00401301" "1" "04253" "04253" "2022-01-31 11:25:31" "" "" "BESS" "DNA" "Blood" "" "0000402546" "00401302" "1" "04253" "04253" "2022-01-31 11:35:29" "" "" "BESS" "DNA" "" "" "0000402547" "00401303" "1" "04253" "04253" "2022-01-31 11:39:10" "" "" "BESS" "DNA" "Blood" "" "0000402752" "00401508" "1" "00006" "00006" "2022-01-31 13:08:55" "" "" "DHPLC;SEQ" "DNA" "" "" "0000402754" "00401510" "1" "00006" "00006" "2022-01-31 13:08:55" "" "" "DHPLC;SEQ" "DNA" "" "" "0000402755" "00401511" "1" "00006" "00006" "2022-01-31 13:08:55" "" "" "DHPLC;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000391292" "SLC26A8" "0000391311" "SLC26A8" "0000402545" "SLC26A8" "0000402546" "SLC26A8" "0000402547" "SLC26A8" "0000402752" "SLC26A8" "0000402754" "SLC26A8" "0000402755" "SLC26A8" ## 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 = 13 "{{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}}" "0000528769" "0" "30" "6" "35911696" "35911696" "subst" "0.000350323" "01943" "SLC26A8_000001" "g.35911696T>C" "" "" "" "SLC26A8(NM_052961.3):c.2894A>G (p.N965S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35943919T>C" "" "likely benign" "" "0000802579" "0" "50" "6" "35945067" "35945067" "subst" "4.06164E-6" "01943" "SLC26A8_000002" "g.35945067A>G" "" "" "" "SLC26A8(NM_052961.3):c.1087T>C (p.S363P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802580" "0" "30" "6" "35945076" "35945076" "subst" "4.06204E-6" "01943" "SLC26A8_000003" "g.35945076G>T" "" "" "" "SLC26A8(NM_052961.3):c.1078C>A (p.Q360K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821054" "21" "70" "6" "35980048" "35980048" "subst" "0" "04198" "SLC26A8_000004" "g.35980048A>G" "" "{PMID:Gao 2021:34923715}, {DOI:Gao 2021:10.1002/humu.24322}" "AHMU" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000821057" "11" "50" "6" "35980126" "35980126" "subst" "0" "04198" "SLC26A8_000005" "g.35980126C>A" "" "{PMID:Gao 2021:34923715}, {DOI:Gao 2021:10.1002/humu.24322}" "AHMU" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000821058" "21" "70" "6" "35980048" "35980048" "subst" "0" "04198" "SLC26A8_000004" "g.35980048A>G" "" "{PMID:Gao 2021:34923715}, {DOI:Gao 2021:10.1002/humu.24322}" "AHMU" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000821059" "11" "90" "6" "35936674" "35936674" "del" "0" "04198" "SLC26A8_000006" "g.35936674del" "" "{PMID:Gao 2021:34923715}, {DOI:Gao 2021:10.1002/humu.24322}" "AHMU" "1349delT" "" "Germline" "" "" "0" "" "" "g.35968897del" "" "pathogenic" "ACMG" "0000836774" "11" "70" "6" "35928687" "35928688" "del" "0" "04253" "SLC26A8_000010" "g.35928687_35928688del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35960910_35960911del" "" "VUS" "" "0000836775" "11" "70" "6" "35922970" "35922970" "subst" "0" "04253" "SLC26A8_000011" "g.35922970C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35955193C>T" "" "VUS" "" "0000836776" "21" "70" "6" "35980033" "35980033" "del" "0" "04253" "SLC26A8_000012" "g.35980033del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.36012256del" "" "VUS" "" "0000836985" "0" "70" "6" "35980078" "35980078" "subst" "0.000319667" "00006" "SLC26A8_000007" "g.35980078C>T" "1/146 cases asthenozoospermia" "{PMID:Dirami 2013:23582645}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36012301C>T" "" "likely pathogenic (dominant)" "" "0000836986" "0" "70" "6" "35918978" "35918978" "subst" "0.000203052" "00006" "SLC26A8_000008" "g.35918978C>T" "1/146 cases asthenozoospermia" "{PMID:Dirami 2013:23582645}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35951201C>T" "" "pathogenic (dominant)" "" "0000836987" "0" "70" "6" "35911730" "35911730" "subst" "6.50015E-5" "00006" "SLC26A8_000009" "g.35911730G>A" "1/146 cases asthenozoospermia" "{PMID:Dirami 2013:23582645}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35943953G>A" "" "likely pathogenic (dominant)" "" ## 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 SLC26A8 ## Count = 13 "{{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}}" "0000528769" "00025655" "30" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "" "0000802579" "00025655" "50" "1087" "0" "1087" "0" "c.1087T>C" "r.(?)" "p.(Ser363Pro)" "" "0000802580" "00025655" "30" "1078" "0" "1078" "0" "c.1078C>A" "r.(?)" "p.(Gln360Lys)" "" "0000821054" "00025655" "70" "290" "0" "290" "0" "c.290T>C" "r.(797u>c)" "p.(Leu97Pro)" "3" "0000821057" "00025655" "50" "212" "0" "212" "0" "c.212G>T" "r.(212g>u)" "p.(Arg71Leu)" "3" "0000821058" "00025655" "70" "290" "0" "290" "0" "c.290T>C" "r.(290u>c)" "p.(Leu97Pro)" "3" "0000821059" "00025655" "90" "1349" "0" "1349" "0" "c.1349del" "r.(1394del)" "p.(Phe450Serfs*14)" "13" "0000836774" "00025655" "70" "1570" "0" "1571" "0" "c.1570_1571del" "r.(1570_1571del)" "p.(Ala524*)" "" "0000836775" "00025655" "70" "2191" "0" "2191" "0" "c.2191G>A" "r.(2191g>a)" "p.(Val731Ile)" "" "0000836776" "00025655" "70" "306" "0" "306" "0" "c.306del" "r.(306del)" "p.(Gly103Alafs*9)" "" "0000836985" "00025655" "70" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87Gln)" "" "0000836986" "00025655" "70" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Glu812Lys)" "" "0000836987" "00025655" "70" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000391292" "0000821054" "0000391292" "0000821057" "0000391311" "0000821058" "0000391311" "0000821059" "0000402545" "0000836774" "0000402546" "0000836775" "0000402547" "0000836776" "0000402752" "0000836985" "0000402754" "0000836986" "0000402755" "0000836987"