### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC9C1) # 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}}" "SLC9C1" "solute carrier family 9 member C1" "3" "q13.2" "unknown" "NC_000003.11" "UD_145627463144" "" "https://www.LOVD.nl/SLC9C1" "" "1" "31401" "285335" "612738" "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/SLC9C1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2017-08-09 00:00:00" "00006" "2021-01-22 18:33:21" "00000" "2024-08-28 13:16:32" ## 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}}" "00025048" "SLC9C1" "solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1" "002" "NM_183061.1" "" "NP_898884.1" "" "" "" "-222" "3901" "3534" "112013074" "111859752" "00000" "2017-08-09 13:26:09" "" "" ## 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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00327488" "" "" "" "1" "" "03984" "{PMID:Cavarocchi 2021:33462806}, {DOI:Cavarocchi 2021:10.1111/cge.13927}" "" "M" "yes" "Guinea" "" "0" "" "" "African" "patient" "00395614" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3055" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00327488" "00201" "00395614" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 04214 ## Count = 2 "{{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}}" "0000245774" "00201" "00327488" "03984" "Familial, autosomal recessive" "" "Male infertility due to functional asthenozoospermie (no major morphological defects of the sperm flagellum)" "31y" "" "" "" "" "" "" "" "" "0000288812" "04214" "00395614" "00000" "Familial, autosomal dominant" "" "cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency" "" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability, renal abnormalities" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000328702" "00327488" "1" "03984" "03984" "2021-01-22 11:05:36" "00006" "2021-01-22 18:40:18" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "WES (whole exome sequencing)" "0000396852" "00395614" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000396852" "IMPG2" ## 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 = 6 "{{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}}" "0000256613" "0" "50" "3" "111962853" "111962853" "subst" "0" "01943" "SLC9C1_000002" "g.111962853A>G" "" "" "" "SLC9C1(NM_183061.3):c.1268T>C (p.V423A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.112244006A>G" "" "VUS" "" "0000517414" "0" "30" "3" "111950254" "111950254" "subst" "0.000233032" "01943" "SLC9C1_000005" "g.111950254G>C" "" "" "" "SLC9C1(NM_183061.3):c.1526C>G (p.T509S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112231407G>C" "" "likely benign" "" "0000517415" "0" "50" "3" "112005617" "112005617" "dup" "0" "01943" "SLC9C1_000006" "g.112005617dup" "" "" "" "SLC9C1(NM_183061.3):c.29dupT (p.S11Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.112286770dup" "" "VUS" "" "0000712721" "3" "90" "3" "111899409" "111899409" "subst" "4.24527E-5" "03984" "SLC9C1_000007" "g.111899409A>G" "" "{PMID:Cavarocchi 2021:33462806}, {DOI:Cavarocchi 2021:10.1111/cge.13927}" "" "" "" "Germline" "" "rs2007949663" "0" "" "" "g.112180562A>G" "" "pathogenic (recessive)" "" "0000828551" "0" "50" "3" "97483365" "113953480" "del" "0" "00000" "IMPG2_000140" "g.97483365_113953480del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous" "no gene indicated in publication!" "Unknown" "?" "" "0" "" "" "g.97764521_114234636del" "" "VUS" "ACMG" "0000993144" "0" "30" "3" "111886139" "111886139" "subst" "0" "01804" "SLC9C1_000008" "g.111886139A>C" "" "" "" "SLC9C1(NM_183061.1):c.3293T>G (p.(Met1098Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SLC9C1 ## Count = 6 "{{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}}" "0000256613" "00025048" "50" "1268" "0" "1268" "0" "c.1268T>C" "r.(?)" "p.(Val423Ala)" "" "0000517414" "00025048" "30" "1526" "0" "1526" "0" "c.1526C>G" "r.(?)" "p.(Thr509Ser)" "" "0000517415" "00025048" "50" "29" "0" "29" "0" "c.29dup" "r.(?)" "p.(Ser11GlnfsTer3)" "" "0000712721" "00025048" "90" "2748" "2" "2748" "2" "c.2748+2T>C" "r.2650_2748del" "p.Glu884_Lys916" "22i" "0000828551" "00025048" "50" "-1940628" "0" "8388607" "0" "c.-1940628_*14376754del" "r.0?" "p.0?" "" "0000993144" "00025048" "30" "3293" "0" "3293" "0" "c.3293T>G" "r.(?)" "p.(Met1098Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000328702" "0000712721" "0000396852" "0000828551"