### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC9A3R1)
# 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}}"
"SLC9A3R1" "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1" "17" "q25.1" "unknown" "NC_000017.10" "UD_134408500716" "" "http://www.LOVD.nl/NHERF1" "" "1" "11075" "9368" "604990" "1" "1" "1" "1" "NOTE: gene name changed from SLC9A3R1 to NHERF1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC9A3R1_codingDNA.html" "1" "" "NOTE: gene name changed from SLC9A3R1 to NHERF1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-02 20:06:55" "00000" "2023-01-11 15:44:22"
## 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}}"
"00019078" "SLC9A3R1" "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1" "001" "NM_004252.4" "" "NP_004243.1" "" "" "" "-235" "1781" "1077" "72744751" "72765499" "" "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}}"
"03114" "NPHLOP2" "nephrolithiasis/osteoporosis, hypophosphatemic, type 2 (NPHLOP-2)" "AD" "612287" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04154" "NPHL" "nephrolithiasis" "" "" "" "" "" "00006" "2014-12-03 13:17:46" "00006" "2022-10-23 21:40:24"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"SLC9A3R1" "03114"
"SLC9A3R1" "04154"
## 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 ##
## Note: Only showing Phenotype columns active for Diseases 03114, 04154
## 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 = 12
"{{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}}"
"0000298365" "0" "10" "17" "72745313" "72745313" "subst" "0.0146902" "02325" "SLC9A3R1_000002" "g.72745313C>G" "" "" "" "SLC9A3R1(NM_004252.5):c.328C>G (p.L110V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74749174C>G" "" "benign" ""
"0000302309" "0" "10" "17" "72744911" "72744911" "subst" "0" "02326" "SLC9A3R1_000001" "g.72744911G>A" "" "" "" "SLC9A3R1(NM_004252.5):c.-75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74748772G>A" "" "benign" ""
"0000302310" "0" "10" "17" "72745313" "72745313" "subst" "0.0146902" "02326" "SLC9A3R1_000002" "g.72745313C>G" "" "" "" "SLC9A3R1(NM_004252.5):c.328C>G (p.L110V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74749174C>G" "" "benign" ""
"0000302311" "0" "30" "17" "72763186" "72763186" "subst" "0" "02326" "SLC9A3R1_000003" "g.72763186G>A" "" "" "" "SLC9A3R1(NM_004252.5):c.798+71G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74767047G>A" "" "likely benign" ""
"0000325599" "0" "50" "17" "72741459" "72741459" "subst" "0.000357677" "01804" "RAB37_000004" "g.72741459G>A" "" "" "" "RAB37(NM_001006638.2):c.581G>A (p.(Arg194Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74745320G>A" "" "VUS" ""
"0000338665" "0" "50" "17" "72764377" "72764377" "subst" "0.000248167" "02327" "SLC9A3R1_000004" "g.72764377T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74768238T>C" "" "VUS" ""
"0000346851" "0" "30" "17" "72745313" "72745313" "subst" "0.0146902" "02327" "SLC9A3R1_000002" "g.72745313C>G" "" "" "" "SLC9A3R1(NM_004252.5):c.328C>G (p.L110V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74749174C>G" "" "likely benign" ""
"0000726660" "0" "50" "17" "72758167" "72758167" "subst" "0.00187266" "02325" "SLC9A3R1_000006" "g.72758167G>A" "" "" "" "SLC9A3R1(NM_004252.5):c.458G>A (p.R153Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855081" "0" "30" "17" "72764388" "72764388" "subst" "0.00140059" "02326" "NAT9_000001" "g.72764388T>C" "" "" "" "SLC9A3R1(NM_004252.5):c.888+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000894239" "0" "50" "17" "72745113" "72745113" "subst" "0" "02325" "SLC9A3R1_000008" "g.72745113A>C" "" "" "" "SLC9A3R1(NM_004252.5):c.128A>C (p.E43A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" ""
"0000894240" "0" "50" "17" "72745114" "72745114" "subst" "0" "02325" "CD300LF_000002" "g.72745114G>T" "" "" "" "SLC9A3R1(NM_004252.5):c.129G>T (p.E43D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000894241" "0" "30" "17" "72758264" "72758264" "subst" "0.00114113" "02326" "SLC9A3R1_000007" "g.72758264C>A" "" "" "" "SLC9A3R1(NM_004252.5):c.555C>A (p.D185E)" "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 SLC9A3R1
## Count = 12
"{{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}}"
"0000298365" "00019078" "10" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Leu110Val)" ""
"0000302309" "00019078" "10" "-75" "0" "-75" "0" "c.-75G>A" "r.(?)" "p.(=)" ""
"0000302310" "00019078" "10" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Leu110Val)" ""
"0000302311" "00019078" "30" "798" "71" "798" "71" "c.798+71G>A" "r.(=)" "p.(=)" ""
"0000325599" "00019078" "50" "-3527" "0" "-3527" "0" "c.-3527G>A" "r.(?)" "p.(=)" ""
"0000338665" "00019078" "50" "888" "2" "888" "2" "c.888+2T>C" "r.spl?" "p.?" ""
"0000346851" "00019078" "30" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Leu110Val)" ""
"0000726660" "00019078" "50" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153Gln)" ""
"0000855081" "00019078" "30" "888" "13" "888" "13" "c.888+13T>C" "r.(=)" "p.(=)" ""
"0000894239" "00019078" "50" "128" "0" "128" "0" "c.128A>C" "r.(?)" "p.(Glu43Ala)" ""
"0000894240" "00019078" "50" "129" "0" "129" "0" "c.129G>T" "r.(?)" "p.(Glu43Asp)" ""
"0000894241" "00019078" "30" "555" "0" "555" "0" "c.555C>A" "r.(?)" "p.(Asp185Glu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0