### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SRC) # 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}}" "SRC" "v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)" "20" "q12-q13" "unknown" "NG_023033.1" "UD_132085331189" "" "https://www.LOVD.nl/SRC" "" "1" "11283" "6714" "190090" "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/SRC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-21 10:35:45" "00000" "2025-11-01 13:22:20" ## 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}}" "00025289" "SRC" "v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog, transcript variant 2" "002" "NM_198291.2" "" "NP_938033.1" "" "" "" "-374" "3664" "1611" "35974531" "36033835" "00006" "2018-06-21 10:34:14" "" "" ## 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}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "06505" "THC6" "?Thrombocytopenia 6" "AD" "616937" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SRC" "06505" ## 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}}" "00165000" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00165000" "00091" "00307142" "01544" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 01544, 06505 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000165870" "00165000" "1" "02509" "02509" "2018-06-20 15:25:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" ## 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}}" "0000369645" "0" "90" "20" "36014563" "36014563" "subst" "4.06164E-6" "02509" "SRC_000001" "g.36014563G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37386160G>C" "" "pathogenic" "" "0000569537" "0" "50" "20" "36024712" "36024712" "subst" "8.18652E-6" "02327" "SRC_000002" "g.36024712C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37396309C>G" "" "VUS" "" "0000675209" "0" "70" "20" "36024564" "36024564" "subst" "0" "03753" "SRC_000003" "g.36024564G>A" "0.053" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000895297" "0" "30" "20" "36030945" "36030945" "subst" "0.00147744" "02326" "SRC_000004" "g.36030945T>C" "" "" "" "SRC(NM_005417.4):c.1224T>C (p.F408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895298" "0" "30" "20" "36031638" "36031638" "subst" "0.000754296" "02326" "SRC_000005" "g.36031638G>A" "" "" "" "SRC(NM_005417.4):c.1467G>A (p.E489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915366" "0" "10" "20" "36030855" "36030855" "subst" "0.00125167" "02326" "SRC_000006" "g.36030855G>A" "" "" "" "SRC(NM_005417.4):c.1134G>A (p.A378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931164" "0" "30" "20" "36024560" "36024560" "subst" "0.0036637" "02326" "SRC_000007" "g.36024560C>T" "" "" "" "SRC(NM_005417.4):c.554-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005364" "0" "30" "20" "36026134" "36026134" "subst" "0" "01804" "SRC_000008" "g.36026134A>C" "" "" "" "SRC(NM_198291.2):c.736A>C (p.(Thr246Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005365" "0" "30" "20" "36030098" "36030098" "subst" "0.000380553" "02326" "SRC_000009" "g.36030098C>A" "" "" "" "SRC(NM_005417.4):c.1116+17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005366" "0" "90" "20" "36031750" "36031750" "subst" "0" "01804" "SRC_000010" "g.36031750G>A" "" "" "" "SRC(NM_198291.2):c.1579G>A (p.(Glu527Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047999" "0" "70" "20" "36031762" "36031762" "subst" "0" "03779" "SRC_000011" "g.36031762C>T" "" "" "" "" "" "Unknown" "" "rs121913314" "0" "" "" "" "" "likely pathogenic" "" "0001056890" "0" "50" "20" "36028560" "36028560" "subst" "" "02327" "chr20_003223" "g.36028560A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056891" "0" "50" "20" "36030022" "36030022" "subst" "" "01804" "chr20_003224" "g.36030022C>T" "" "" "" "SRC(NM_198291.3):c.1057C>T (p.(Leu353Phe))" "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 SRC ## 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}}" "0000369645" "00025289" "90" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(Gln112His)" "" "0000569537" "00025289" "50" "701" "0" "701" "0" "c.701C>G" "r.(?)" "p.(Ser234Cys)" "" "0000675209" "00025289" "70" "554" "-1" "554" "-1" "c.554-1G>A" "r.spl?" "p.?" "" "0000895297" "00025289" "30" "1224" "0" "1224" "0" "c.1224T>C" "r.(?)" "p.(Phe408=)" "" "0000895298" "00025289" "30" "1467" "0" "1467" "0" "c.1467G>A" "r.(?)" "p.(Glu489=)" "" "0000915366" "00025289" "10" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Ala378=)" "" "0000931164" "00025289" "30" "554" "-5" "554" "-5" "c.554-5C>T" "r.spl?" "p.?" "" "0001005364" "00025289" "30" "736" "0" "736" "0" "c.736A>C" "r.(?)" "p.(Thr246Pro)" "" "0001005365" "00025289" "30" "1116" "17" "1116" "17" "c.1116+17C>A" "r.(=)" "p.(=)" "" "0001005366" "00025289" "90" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Glu527Lys)" "" "0001047999" "00025289" "70" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Gln531Ter)" "" "0001056890" "00025289" "50" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Lys301Arg)" "" "0001056891" "00025289" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Leu353Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000165870" "0000369645" "0000308283" "0000675209"