### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC4A5) # 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}}" "SLC4A5" "solute carrier family 4, sodium bicarbonate cotransporter, member 5" "2" "p13.1" "unknown" "NG_032663.1" "UD_134713094802" "" "https://www.LOVD.nl/SLC4A5" "" "1" "18168" "57835" "606757" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC4A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-23 14:43:03" "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}}" "00019015" "SLC4A5" "transcript variant a" "002" "NM_021196.3" "" "NP_067019.3" "" "" "" "-2" "3447" "3414" "74542152" "74448561" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 ## ## 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 = 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}}" "0000327125" "0" "50" "2" "74474231" "74474231" "subst" "8.5273E-5" "01804" "SLC4A5_000001" "g.74474231G>C" "" "" "" "SLC4A5(NM_021196.3):c.1991C>G (p.(Pro664Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74247104G>C" "" "VUS" "" "0000342270" "0" "50" "2" "74491339" "74491339" "subst" "4.06237E-6" "02327" "SLC4A5_000002" "g.74491339C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74264212C>T" "" "VUS" "" "0000993016" "0" "30" "2" "74451971" "74451971" "subst" "4.11063E-6" "01804" "MTHFD2_000001" "g.74451971T>G" "" "" "" "SLC4A5(NM_133478.2):c.3242A>C (p.(Glu1081Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993017" "0" "30" "2" "74458397" "74458397" "subst" "0.000200082" "01804" "MTHFD2_000002" "g.74458397G>A" "" "" "" "SLC4A5(NM_133478.2):c.2813C>T (p.(Thr938Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993018" "0" "30" "2" "74459684" "74459684" "subst" "4.06388E-6" "01804" "MTHFD2_000003" "g.74459684T>C" "" "" "" "SLC4A5(NM_133478.2):c.2686A>G (p.(Thr896Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993019" "0" "30" "2" "74460621" "74460621" "subst" "0" "01804" "MTHFD2_000004" "g.74460621T>C" "" "" "" "SLC4A5(NM_133478.2):c.2503A>G (p.(Ser835Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993020" "0" "30" "2" "74460656" "74460656" "subst" "0.000585671" "01804" "MTHFD2_000005" "g.74460656G>A" "" "" "" "SLC4A5(NM_133478.2):c.2468C>T (p.(Pro823Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993021" "0" "30" "2" "74462286" "74462286" "subst" "0.000393992" "01804" "MTHFD2_000006" "g.74462286C>T" "" "" "" "SLC4A5(NM_133478.2):c.2375G>A (p.(Gly792Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993022" "0" "50" "2" "74466615" "74466617" "del" "0" "01804" "MTHFD2_000007" "g.74466615_74466617del" "" "" "" "SLC4A5(NM_133478.2):c.2167_2169delAAG (p.(Lys723del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993023" "0" "50" "2" "74466628" "74466628" "subst" "0" "01804" "MTHFD2_000008" "g.74466628G>C" "" "" "" "SLC4A5(NM_133478.2):c.2153C>G (p.(Ser718Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993024" "0" "50" "2" "74480228" "74480228" "subst" "2.43712E-5" "01804" "MTHFD2_000009" "g.74480228G>A" "" "" "" "SLC4A5(NM_133478.2):c.1141C>T (p.(Arg381Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993025" "0" "30" "2" "74489312" "74489312" "subst" "0" "01804" "MTHFD2_000010" "g.74489312A>C" "" "" "" "SLC4A5(NM_133478.2):c.763T>G (p.(Ser255Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993026" "0" "50" "2" "74512931" "74512931" "subst" "1.22015E-5" "01804" "MTHFD2_000011" "g.74512931C>T" "" "" "" "SLC4A5(NM_133478.2):c.370G>A (p.(Gly124Arg))" "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 SLC4A5 ## 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}}" "0000327125" "00019015" "50" "1991" "0" "1991" "0" "c.1991C>G" "r.(?)" "p.(Pro664Arg)" "" "0000342270" "00019015" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "0000993016" "00019015" "30" "3290" "0" "3290" "0" "c.3290A>C" "r.(?)" "p.(Glu1097Ala)" "" "0000993017" "00019015" "30" "2813" "0" "2813" "0" "c.2813C>T" "r.(?)" "p.(Thr938Met)" "" "0000993018" "00019015" "30" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Thr896Ala)" "" "0000993019" "00019015" "30" "2503" "0" "2503" "0" "c.2503A>G" "r.(?)" "p.(Ser835Gly)" "" "0000993020" "00019015" "30" "2468" "0" "2468" "0" "c.2468C>T" "r.(?)" "p.(Pro823Leu)" "" "0000993021" "00019015" "30" "2375" "0" "2375" "0" "c.2375G>A" "r.(?)" "p.(Gly792Glu)" "" "0000993022" "00019015" "50" "2167" "0" "2169" "0" "c.2167_2169del" "r.(?)" "p.(Lys723del)" "" "0000993023" "00019015" "50" "2153" "0" "2153" "0" "c.2153C>G" "r.(?)" "p.(Ser718Cys)" "" "0000993024" "00019015" "50" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381Cys)" "" "0000993025" "00019015" "30" "763" "0" "763" "0" "c.763T>G" "r.(?)" "p.(Ser255Ala)" "" "0000993026" "00019015" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Gly124Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0