### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = P2RY10) # 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}}" "P2RY10" "purinergic receptor P2Y, G-protein coupled, 10" "X" "q21.1" "unknown" "NG_013276.1" "UD_132118912298" "" "http://www.LOVD.nl//P2RY10" "" "1" "19906" "" "300529" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/P2RY10_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2016-07-20 09:00:25" "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}}" "00000450" "P2RY10" "transcript variant 1" "001" "NM_014499.2" "" "NP_055314.1" "" "" "" "-369" "1421" "1020" "78200829" "78217438" "00000" "2012-09-13 12:16:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00078577" "" "" "" "5" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377202-Pat?" "00409866" "" "" "" "1" "" "03322" "{PMID:Masunaga 2022:36224347}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00078577" "00187" "00409866" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 05517 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000058347" "00187" "00078577" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000301981" "05517" "00409866" "03322" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "skeletal dysplasia at born" "NANS" "" "" "" "SEMDG" "NANS-CDG" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000078759" "00078577" "1" "00124" "00006" "2009-04-08 14:01:02" "" "" "SEQ" "DNA" "" "" "0000411129" "00409866" "1" "03322" "03322" "2022-05-13 03:14:16" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000078759" "P2RY10" "0000411129" "NANS" ## 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}}" "0000007203" "20" "50" "X" "78203401" "78203401" "subst" "0" "00037" "P2RY10_000002" "g.78203401C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78947904C>A" "" "VUS" "" "0000009301" "20" "30" "X" "78203401" "78203401" "subst" "0" "00037" "P2RY10_000002" "g.78203401C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78947904C>A" "" "likely benign" "" "0000125862" "21" "50" "X" "78216024" "78216024" "subst" "0.141772" "00124" "P2RY10_000001" "g.78216024A>C" "5/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent variant" "Germline" "" "" "0" "" "" "g.78960527A>C" "" "VUS" "" "0000304899" "0" "30" "X" "78216485" "78216485" "subst" "0" "01943" "P2RY10_000005" "g.78216485C>T" "" "" "" "P2RY10(NM_014499.4):c.468C>T (p.I156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78960988C>T" "" "likely benign" "" "0000334776" "0" "30" "X" "78216032" "78216032" "subst" "5.73618E-6" "01804" "P2RY10_000003" "g.78216032C>A" "" "" "" "P2RY10(NM_014499.2):c.15C>A (p.(Asp5Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78960535C>A" "" "likely benign" "" "0000334777" "0" "50" "X" "78216360" "78216360" "subst" "5.61858E-6" "01804" "P2RY10_000004" "g.78216360C>G" "" "" "" "P2RY10(NM_014499.2):c.343C>G (p.(Leu115Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78960863C>G" "" "VUS" "" "0000334778" "0" "50" "X" "78216724" "78216724" "subst" "3.36916E-5" "01804" "P2RY10_000006" "g.78216724G>A" "" "" "" "P2RY10(NM_014499.2):c.707G>A (p.(Ser236Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78961227G>A" "" "VUS" "" "0000619921" "0" "50" "X" "78216457" "78216457" "subst" "4.48871E-5" "01943" "P2RY10_000007" "g.78216457G>A" "" "" "" "P2RY10(NM_014499.4):c.440G>A (p.R147K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78960960G>A" "" "VUS" "" "0000682671" "0" "30" "X" "78216689" "78216689" "subst" "0" "01943" "P2RY10_000008" "g.78216689C>T" "" "" "" "P2RY10(NM_001324218.1):c.672C>T (p.S224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810689" "0" "30" "X" "78216854" "78216854" "subst" "0.000106618" "01943" "P2RY10_000009" "g.78216854T>G" "" "" "" "P2RY10(NM_001324218.1):c.837T>G (p.V279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933159" "21" "50" "X" "78216049" "78216049" "subst" "3.39526E-5" "00006" "P2RY10_000010" "g.78216049T>A" "" "{PMID:Masunaga 2022:36224347}" "" "" "" "Germline" "" "" "0" "" "" "g.78960552T>A" "" "VUS" "" "0001006983" "0" "50" "X" "78216686" "78216686" "subst" "0" "01804" "P2RY10_000011" "g.78216686A>G" "" "" "" "P2RY10(NM_014499.2):c.669A>G (p.(Ile223Met))" "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 P2RY10 ## 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}}" "0000007203" "00000450" "50" "-157" "41" "-157" "41" "c.-157+41C>A" "r.(?)" "p.(=)" "2i" "0000009301" "00000450" "30" "-157" "41" "-157" "41" "c.-157+41C>A" "r.(?)" "p.(=)" "2i" "0000125862" "00000450" "50" "7" "0" "7" "0" "c.7A>C" "r.(?)" "p.(Asn3His)" "4" "0000304899" "00000450" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Ile156=)" "" "0000334776" "00000450" "30" "15" "0" "15" "0" "c.15C>A" "r.(?)" "p.(Asp5Glu)" "" "0000334777" "00000450" "50" "343" "0" "343" "0" "c.343C>G" "r.(?)" "p.(Leu115Val)" "" "0000334778" "00000450" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Ser236Asn)" "" "0000619921" "00000450" "50" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147Lys)" "" "0000682671" "00000450" "30" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(Ser224=)" "" "0000810689" "00000450" "30" "837" "0" "837" "0" "c.837T>G" "r.(?)" "p.(Val279=)" "" "0000933159" "00000450" "50" "32" "0" "32" "0" "c.32T>A" "r.(?)" "p.(Phe11Tyr)" "" "0001006983" "00000450" "50" "669" "0" "669" "0" "c.669A>G" "r.(?)" "p.(Ile223Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007203" "0000000210" "0000009301" "0000078759" "0000125862" "0000411129" "0000933159"