### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SRSF3) # 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}}" "SRSF3" "serine/arginine-rich splicing factor 3" "6" "p21" "unknown" "NC_000006.11" "UD_133034022428" "" "https://www.LOVD.nl/SRSF3" "" "1" "10785" "6428" "603364" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SRSF3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-09-04 11:54:24" "00006" "2026-09-04 11:49:14" ## 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}}" "00020317" "SRSF3" "transcript variant 1" "002" "NM_003017.4" "" "NP_003008.1" "" "" "" "-171" "2973" "495" "36562090" "36572244" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SRSF3" "00139" "SRSF3" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00484349" "" "" "" "1" "" "03578" "" "" "F" "" "" "" "" "" "" "" "Subject 1" "00484350" "" "" "" "1" "" "03578" "" "" "F" "" "" "" "" "" "" "" "Subject 2" "00484351" "" "" "" "1" "" "03578" "" "" "F" "" "" "" "" "" "" "" "Subject 3" "00484352" "" "" "" "1" "" "03578" "" "" "M" "" "" "" "" "" "" "" "Subject 4" "00484353" "" "" "" "1" "" "03578" "" "" "M" "" "" "" "" "" "" "" "Subject 5" "00484354" "" "" "" "1" "" "03578" "" "" "M" "" "" "" "" "" "" "" "Subject 6" "00484355" "" "" "" "1" "" "03578" "" "" "F" "" "" "" "" "" "" "" "Subject 7" "00484356" "" "" "" "1" "" "03578" "" "" "M" "" "Netherlands" "" "0" "" "" "" "Subject 8" "00484357" "" "" "" "1" "" "03578" "" "" "M" "" "" "" "" "" "" "" "Subject 9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00484349" "05162" "00484350" "05162" "00484351" "00198" "00484352" "05162" "00484353" "05162" "00484354" "05162" "00484355" "05162" "00484356" "05162" "00484357" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05162, 05611 ## Count = 9 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000367126" "05162" "00484349" "03578" "Isolated (sporadic)" "" "Delayed motor development (HP:0001270); Delayed speech and language development (HP:0000750); Abnormality of the gastro-intestinal system (HP:0011024)" "" "" "" "" "" "" "" "" "" "" "0000367127" "05162" "00484350" "03578" "Isolated (sporadic)" "" "Delayed motor development (HP:0001270); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Autism (HP:0000717); Seizures (HP:0001250); Abnormality of the face (HP:0000271); Abnormality of limbs (HP:0040064); Abnormality of the gastro-intestinal system (HP:0011024)" "" "" "" "" "" "" "" "" "" "" "0000367128" "00198" "00484351" "03578" "Unknown" "" "Atypical behavior (HP:0000708); Abnormality of the face (HP:0000271); Abnormality of limbs (HP:0040064); Abnormality of the gastro-intestinal system (HP:0011024); Precocious puberty (HP:0000826);" "" "" "" "" "" "" "" "" "" "" "0000367130" "05162" "00484352" "03578" "Isolated (sporadic)" "" "Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "0000367131" "05162" "00484353" "03578" "Isolated (sporadic)" "" "Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Seizures (HP:0001250); Abnormality of the face (HP:0000271); Abnormality of limbs (HP:0040064)" "" "" "" "" "" "" "" "" "" "" "0000367132" "05162" "00484354" "03578" "Isolated (sporadic)" "" "Delayed motor development (HP:0001270); Delayed speech and language development (HP:0000750); Hypotonia (HP:0001252); Abnormal brain morphology (HP:0012443); Abnormality of the face (HP:0000271);" "" "" "" "" "" "" "" "" "" "" "0000367133" "05162" "00484355" "03578" "Unknown" "" "Delayed motor development (HP:0001270); Delayed speech and language development (HP:0000750); Atypical behavior (HP:0000708); Abnormality of the face (HP:0000271); Abnormality of the gastro-intestinal system (HP:0011024); Precocious puberty (HP:0000826);" "" "" "" "" "" "" "" "" "" "" "0000367134" "05162" "00484356" "03578" "Isolated (sporadic)" "" "Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Atypical behavior (HP:0000708); Abnormality of the face (HP:0000271);" "" "" "" "" "" "" "" "" "" "" "0000367135" "05162" "00484357" "03578" "Unknown" "" "Delayed motor development (HP:0001270); Delayed speech and language development (HP:0000750); Autism (HP:0000717); Abnormality of the face (HP:0000271); Abnormality of limbs (HP:0040064)" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000485998" "00484349" "1" "03578" "03578" "2026-09-04 10:21:57" "" "" "SEQ-NG" "DNA" "" "" "0000485999" "00484350" "1" "03578" "03578" "2026-09-04 10:29:21" "" "" "SEQ-NG" "DNA" "" "" "0000486000" "00484351" "1" "03578" "03578" "2026-09-04 10:36:03" "" "" "SEQ-NG" "DNA" "" "" "0000486001" "00484352" "1" "03578" "03578" "2026-09-04 10:41:16" "" "" "SEQ-NG" "DNA" "" "" "0000486002" "00484353" "1" "03578" "03578" "2026-09-04 10:45:02" "" "" "SEQ-NG" "DNA" "" "" "0000486003" "00484354" "1" "03578" "03578" "2026-09-04 10:48:11" "" "" "SEQ-NG" "DNA" "" "" "0000486004" "00484355" "1" "03578" "03578" "2026-09-04 10:53:18" "" "" "SEQ-NG" "DNA" "" "" "0000486005" "00484356" "1" "03578" "03578" "2026-09-04 10:56:10" "" "" "SEQ-NG" "DNA" "" "" "0000486006" "00484357" "1" "03578" "03578" "2026-09-04 10:58:48" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000485998" "SRSF3" "0000485999" "SRSF3" "0000486000" "SRSF3" "0000486001" "SRSF3" "0000486002" "SRSF3" "0000486003" "SRSF3" "0000486004" "SRSF3" "0000486005" "SRSF3" "0000486006" "SRSF3" ## 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 = 10 "{{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}}" "0000689730" "0" "50" "6" "36569549" "36569549" "subst" "0" "01943" "SRSF3_000001" "g.36569549C>T" "" "" "" "SRSF3(NM_003017.5):c.445C>T (p.R149*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001084178" "0" "90" "6" "36564720" "36564720" "subst" "0" "03578" "SRSF3_000002" "g.36564720G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36596943G>C" "" "likely pathogenic (dominant)" "ACMG" "0001084179" "0" "90" "6" "36566661" "36566661" "subst" "0" "03578" "SRSF3_000003" "g.36566661C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36598884C>G" "" "likely pathogenic (dominant)" "ACMG" "0001084180" "0" "90" "6" "36566749" "36566750" "del" "0" "03578" "SRSF3_000004" "g.36566749_36566750del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36598972_36598973del" "" "likely pathogenic (dominant)" "ACMG" "0001084181" "0" "90" "6" "36569506" "36569507" "del" "0" "03578" "SRSF3_000005" "g.36569506_36569507del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36601729_36601730del" "" "likely pathogenic (dominant)" "ACMG" "0001084182" "0" "90" "6" "36569549" "36569549" "subst" "0" "03578" "SRSF3_000001" "g.36569549C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36601772C>T" "" "pathogenic (dominant)" "ACMG" "0001084183" "0" "90" "6" "36569549" "36569549" "subst" "0" "03578" "SRSF3_000001" "g.36569549C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36601772C>T" "" "pathogenic (dominant)" "ACMG" "0001084184" "0" "90" "6" "36569549" "36569549" "subst" "0" "03578" "SRSF3_000001" "g.36569549C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36601772C>T" "" "pathogenic (dominant)" "ACMG" "0001084185" "0" "90" "6" "36569549" "36569549" "subst" "0" "03578" "SRSF3_000001" "g.36569549C>T" "" "" "" "" "DUPLICATE entry: identical to variant 0000689730 from VKGL data sharing initiative Nederland" "De novo" "" "" "0" "" "" "g.36601772C>T" "" "pathogenic (dominant)" "ACMG" "0001084186" "0" "90" "6" "36569748" "36569748" "dup" "0" "03578" "SRSF3_000006" "g.36569748dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36601971dup" "" "likely pathogenic (dominant)" "ACMG" ## 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 SRSF3 ## Count = 10 "{{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}}" "0000689730" "00020317" "50" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Ter)" "" "0001084178" "00020317" "90" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Asp61His)" "2" "0001084179" "00020317" "90" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Ser81Trp)" "3" "0001084180" "00020317" "90" "330" "0" "331" "0" "c.330_331del" "r.(?)" "p.(Pro111SerfsTer20)" "3" "0001084181" "00020317" "90" "402" "0" "403" "0" "c.402_403del" "r.(?)" "p.(Arg137IlefsTer16)" "5" "0001084182" "00020317" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Ter)" "5" "0001084183" "00020317" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Ter)" "5" "0001084184" "00020317" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Ter)" "5" "0001084185" "00020317" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Ter)" "5" "0001084186" "00020317" "90" "477" "0" "477" "0" "c.477dup" "r.(?)" "p.(Ser160ValfsTer3)" "6" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000485998" "0001084178" "0000485999" "0001084179" "0000486000" "0001084180" "0000486001" "0001084181" "0000486002" "0001084182" "0000486003" "0001084183" "0000486004" "0001084184" "0000486005" "0001084185" "0000486006" "0001084186"