### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM122C)
# 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}}"
"FAM122C" "family with sequence similarity 122C" "X" "q26.3" "unknown" "NC_000023.10" "UD_132119064775" "" "https://www.LOVD.nl/PABIR3" "" "1" "25202" "159091" "" "1" "1" "1" "1" "NOTE: gene name changed from FAM122C to PABIR3\r\nThis gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "NOTE: gene name changed from FAM122C to PABIR3" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-11-27 18:40:53" "00000" "2025-05-05 21:14:00"
## 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}}"
"00000748" "FAM122C" "transcript variant 2" "004" "NM_138819.3" "" "NP_620174.1" "" "" "" "-406" "959" "459" "133941223" "133988641" "00000" "2012-09-13 12:51:08" "" ""
## 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}}"
"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"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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" "" "" "" ""
"00173602" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00173602" "00187"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 01157
## Count = 3
"{{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" "" "" "" "" "" "" ""
"0000138466" "00187" "00173602" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{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" "" ""
"0000174485" "00173602" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000174485" "FAM47B"
## 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 = 19
"{{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}}"
"0000003250" "20" "50" "X" "133955274" "133955274" "del" "0" "00037" "FAM122C_000006" "g.133955274del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134821244del" "" "VUS" ""
"0000007677" "20" "50" "X" "133963268" "133963268" "subst" "0.0407111" "00037" "FAM122C_000003" "g.133963268C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134829238C>T" "" "VUS" ""
"0000009817" "20" "50" "X" "133963268" "133963268" "subst" "0.0407111" "00037" "FAM122C_000003" "g.133963268C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134829238C>T" "" "VUS" ""
"0000011225" "0" "50" "X" "133948733" "133948733" "del" "0" "00037" "FAM122C_000008" "g.133948733del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134814703del" "" "VUS" ""
"0000011226" "0" "50" "X" "133955274" "133955274" "del" "0" "00037" "FAM122C_000006" "g.133955274del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134821244del" "" "VUS" ""
"0000254757" "0" "30" "X" "133986851" "133986851" "subst" "0.00040088" "01943" "FAM122C_000014" "g.133986851A>G" "" "" "" "FAM122C(NM_001170779.1):c.367A>G (p.N123D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134852821A>G" "" "likely benign" ""
"0000276551" "0" "30" "X" "133938126" "133938126" "subst" "0" "01943" "FAM122C_000009" "g.133938126T>A" "" "" "" "FAM122C(NM_001170780.1):c.-97-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134804096T>A" "" "likely benign" ""
"0000276552" "0" "50" "X" "133955370" "133955370" "subst" "1.01939E-5" "01943" "FAM122C_000010" "g.133955370C>A" "" "" "" "FAM122C(NM_001170783.1):c.203C>A (p.P68H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134821340C>A" "" "VUS" ""
"0000335589" "0" "50" "X" "133981452" "133981452" "subst" "0" "01804" "FAM122C_000011" "g.133981452A>C" "" "" "" "FAM122C(NM_138819.3):c.385A>C (p.(Ile129Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134847422A>C" "" "VUS" ""
"0000335590" "0" "30" "X" "133981492" "133981492" "subst" "5.669E-5" "01804" "FAM122C_000012" "g.133981492A>G" "" "" "" "FAM122C(NM_001170779.1):c.345+2061A>G, FAM122C(NM_138819.3):c.425A>G (p.(Lys142Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134847462A>G" "" "likely benign" ""
"0000335591" "0" "50" "X" "133988247" "133988247" "subst" "0" "01804" "FAM122C_000013" "g.133988247G>A" "" "" "" "FAM122C(NM_001170779.1):c.569G>A (p.(Ser190Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134854217G>A" "" "VUS" ""
"0000401026" "1" "50" "X" "133963268" "133963268" "subst" "0.0407111" "00124" "FAM122C_000003" "g.133963268C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P68S" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.134829238C>T" "" "VUS" ""
"0000573649" "0" "30" "X" "133981508" "133981508" "subst" "0.00333247" "01804" "FAM122C_000016" "g.133981508A>G" "" "" "" "FAM122C(NM_001365748.2):c.438+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134847478A>G" "" "likely benign" ""
"0000573650" "0" "30" "X" "133988125" "133988125" "subst" "2.83648E-5" "01943" "FAM122C_000017" "g.133988125C>T" "" "" "" "FAM122C(NM_138819.3):c.443C>T (p.T148I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134854095C>T" "" "likely benign" ""
"0000619015" "0" "30" "X" "133955554" "133955554" "subst" "1.96269E-5" "01943" "FAM122C_000018" "g.133955554C>G" "" "" "" "FAM122C(NM_001170782.1):c.245C>G (p.T82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134821524C>G" "" "likely benign" ""
"0000809915" "0" "30" "X" "133941746" "133941746" "subst" "0.000170015" "01804" "FAM122C_000019" "g.133941746G>C" "" "" "" "FAM122C(NM_001170779.1):c.110+8G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809916" "0" "30" "X" "133988147" "133988147" "del" "0" "01804" "FAM122C_000020" "g.133988147del" "" "" "" "FAM122C(NM_001170779.1):c.469del (p.(Thr157Argfs*9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867056" "0" "30" "X" "133981429" "133981429" "subst" "0" "01943" "FAM122C_000021" "g.133981429A>G" "" "" "" "FAM122C(NM_001365748.1):c.362A>G (p.Q121R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867057" "0" "30" "X" "133981492" "133981492" "subst" "5.669E-5" "01943" "FAM122C_000012" "g.133981492A>G" "" "" "" "FAM122C(NM_001170779.1):c.345+2061A>G, FAM122C(NM_138819.3):c.425A>G (p.(Lys142Arg))" "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 FAM122C
## Count = 19
"{{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}}"
"0000003250" "00000748" "50" "189" "6395" "189" "6395" "c.189+6395del" "r.(=)" "p.(=)" ""
"0000007677" "00000748" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Pro68Ser)" ""
"0000009817" "00000748" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Pro68Ser)" ""
"0000011225" "00000748" "50" "111" "-68" "111" "-68" "c.111-68del" "r.(=)" "p.(=)" ""
"0000011226" "00000748" "50" "189" "6395" "189" "6395" "c.189+6395del" "r.(=)" "p.(=)" ""
"0000254757" "00000748" "30" "439" "-1270" "439" "-1270" "c.439-1270A>G" "r.(=)" "p.(=)" ""
"0000276551" "00000748" "30" "-3503" "0" "-3503" "0" "c.-3503T>A" "r.(?)" "p.(=)" ""
"0000276552" "00000748" "50" "189" "6491" "189" "6491" "c.189+6491C>A" "r.(=)" "p.(=)" ""
"0000335589" "00000748" "50" "385" "0" "385" "0" "c.385A>C" "r.(?)" "p.(Ile129Leu)" ""
"0000335590" "00000748" "30" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Lys142Arg)" ""
"0000335591" "00000748" "50" "565" "0" "565" "0" "c.*106G>A" "r.(=)" "p.(=)" ""
"0000401026" "00000748" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Pro68Ser)" "2"
"0000573649" "00000748" "30" "438" "3" "438" "3" "c.438+3A>G" "r.spl?" "p.?" ""
"0000573650" "00000748" "30" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Thr148Ile)" ""
"0000619015" "00000748" "30" "189" "6675" "189" "6675" "c.189+6675C>G" "r.(=)" "p.(=)" ""
"0000809915" "00000748" "30" "110" "8" "110" "8" "c.110+8G>C" "r.(=)" "p.(=)" ""
"0000809916" "00000748" "30" "465" "0" "465" "0" "c.*6del" "r.(?)" "p.(=)" ""
"0000867056" "00000748" "30" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Gln121Arg)" ""
"0000867057" "00000748" "30" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Lys142Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000003250"
"0000000209" "0000007677"
"0000000210" "0000009817"
"0000000210" "0000011225"
"0000000210" "0000011226"
"0000174485" "0000401026"