### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC17A5) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "SLC17A5" "solute carrier family 17 (anion/sugar transporter), member 5" "6" "q13" "unknown" "NG_008272.1" "UD_132118860859" "{PMID:Verheijen et al. 1999:10581036} {PMID:Haataja et al. 1994:8198127}" "" "Finnish Disease Database (FinDis) " "1" "1" "10933" "26503" "604322" "1" "1" "1" "Only mutations associated with Salla disease (SD) are shown.\r\n\r\nThe establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66)." "" "g" "http://databases.lovd.nl/shared/refseq/SLC17A5_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-08-30 00:00:00" "00015" "2015-11-22 15:26:44" "00006" "2017-05-05 19:04:37" ## 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}}" "00000286" "SLC17A5" "solute carrier family 17 (anion/sugar transporter), member 5" "001" "NM_012434.4" "" "NP_036566.1" "" "" "" "-128" "3186" "1488" "74363737" "74303102" "00008" "2012-08-30 17:46:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00048" "ISSD" "sialic acid storage disorder, infantile (ISSD)" "269920" "" "" "" "00008" "2012-08-30 17:40:36" "00006" "2015-12-08 23:54:35" "00049" "SD" "Salla disease (SD)" "604369" "" "" "" "00008" "2012-08-30 17:41:19" "00006" "2015-12-08 23:54:35" "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" "2016-10-22 17:54:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SLC17A5" "00048" "SLC17A5" "00049" "SLC17A5" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "00050621" "" "" "" "2" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080925" "" "" "" "1" "01758" "9" "00006" "2016-09-07 13:24:08" "" "" "Trujillano et al., submitted" "unaffected parents" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050621" "00198" "00080925" "00049" ## Phenotypes ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Pancreas/Insufficiency}}" "{{Phenotype/Scalp/Defects}}" "{{Phenotype/Anorectum/Anomalies}}" "{{Phenotype/Genitals/Malformations}}" "{{Phenotype/Hypothyroidism}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Malformations/Other}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Heart/Defects}}" "{{Phenotype/Teeth/Oligodontia}}" "{{Phenotype/Brain/Corpus_Callosum/Agenesis}}" "{{Phenotype/Behavior/Abnormality}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Birth/OFC_at_birth_SDS}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Brain_MRI}}" "{{Phenotype/Choanal_stenosis}}" "{{Phenotype/Bone/Age}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Elbow/Dislocated}}" "{{Phenotype/Extremities/Brachydactyly}}" "{{Phenotype/Extremities/Epiphyses/Cone_shaped}}" "{{Phenotype/Extremities/Nails/Small}}" "{{Phenotype/Extremities/Phalanges/Distal/Absent_5th}}" "{{Phenotype/Extremities/Phalanges/Distal/Prominent}}" "{{Phenotype/Extremities/Phalanges/Hypoplasia}}" "{{Phenotype/Extremities/Joints/Interphalangeal/Prominent}}" "{{Phenotype/Facial/Ears/Abnormal}}" "{{Phenotype/Facial/Ears/Tags}}" "{{Phenotype/Facial/Mouth/Wide}}" "{{Phenotype/Facial/Nose/Bridge}}" "{{Phenotype/Facial/Nose/Anteverted}}" "{{Phenotype/Facial/Philtrum/Length}}" "{{Phenotype/Facial/Philtrum/Width}}" "{{Phenotype/Facial/Ptosis}}" "{{Phenotype/Facial/Eyebrows/Density}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Feeding/Problems/Duration}}" "{{Phenotype/Feeding/Problems/Start}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Growth}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Hair/Scalp}}" "{{Phenotype/Hearing/Other}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Hypertrichosis}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Hernia/Inguinal}}" "{{Phenotype/Intestinal/GastroEsophoegal_Reflux}}" "{{Phenotype/Intestinal/Stenosis_Pyloric}}" "{{Phenotype/Joint/Laxity}}" "{{Phenotype/Malformations/Cardiac}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Intestine/Abnormality}}" "{{Phenotype/Kidney/Anomaly}}" "{{Phenotype/Facial/Lacrimal_Duct/Abnormality}}" "{{Phenotype/Pectus_excavatum}}" "{{Phenotype/Scoliosis}}" "{{Phenotype/Seizures}}" "{{Phenotype/Seizures/Age/Onset}}" "{{Phenotype/Seizures/Frequency}}" "{{Phenotype/Seizures/Type}}" "{{Phenotype/Skin/Cutis_marmorata}}" "{{Phenotype/Skin/Eczema}}" "{{Phenotype/Skin/Wrinkling}}" "{{Phenotype/Patella/Small}}" "{{Phenotype/Vision/Astigmatism}}" "{{Phenotype/Vision/Coloboma}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Teeth/Anomalies}}" "{{Phenotype/Development/Speech}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Examined/Last}}" "{{Phenotype/Teeth}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Severity_score}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Diagnosis/Original}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Hemihypertrophy/HPO_0001528}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Adrenal_hypoplasia/HPO_0000835}}" "{{Phenotype/Hypercalciuria/HPO_0002150}}" "{{Phenotype/Facial/Frontal_bossing/HPO_0002007}}" "{{Phenotype/Facial/Nose}}" "{{Phenotype/Arms_short/HPO_0009824}}" "{{Phenotype/Limbs_short/HPO_0006385}}" "{{Phenotype/Craniosynostosis/HPO_1363}}" "{{Phenotype/Osteopenia/HPO_0000938}}" "{{Phenotype/Epiphyses_smal/HPO_0010585}}" "{{Phenotype/Metaphyses_irregular/HPO_0003025}}" "{{Phenotype/Macrosomia/HPO_0001520}}" "{{Phenotype/Macroglossia/HPO_0000158}}" "{{Phenotype/Abdominal_wall_defect/HPO_0010866}}" "{{Phenotype/Hypoglycemia/HPO_0001943}}" "{{Phenotype/Tumor}}" "{{Phenotype/Karyotype}}" "{{Phenotype/Organomegaly}}" "{{Phenotype/Heart/Abnormality}}" "{{Phenotype/Eyelid/Naevus_flammeus/HPO_0010733}}" "{{Phenotype/Fever_episodic/HPO_0001954}}" "{{Phenotype/Dehydration/HPO_0001944}}" "{{Phenotype/Cyanosis/HPO_0000961}}" "{{Phenotype/Swallowing_poor/HPO_0002015}}" "{{Phenotype/Camptodactyly/HPO_0012385}}" "{{Phenotype/Cheeks_full/HPO_0000293}}" "{{Phenotype/Foot_abnormality/HPO_0001760}}" "{{Phenotype/Palate_high/HPO_0000218}}" "{{Phenotype/Sweating/Cold_induced}}" "{{Phenotype/Contractures/Joints_large/HPO_0005781}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Neuropathy_peripheral/HPO_0009830}}" "{{Phenotype/Tumor/IHC}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Family/Criteria}}" "{{Phenotype/Family/History}}" "{{Phenotype/BleedingScore}}" "{{Phenotype/BleedingScore/Tool}}" "{{Phenotype/Sub_type}}" "{{Phenotype/Iron/Hepatic_elevated/HPO_0012465}}" "{{Phenotype/Hand/Small/HPO_0200055}}" "{{Phenotype/Hypermobility}}" "{{Phenotype/Obesity/HPO_0001513}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Puberty}}" "{{Phenotype/AmnioticFluid/Abnormality/HPO_0001560}}" "{{Phenotype/Placentomegaly}}" "{{Phenotype/Prenatal}}" "{{Phenotype/Birth/Length}}" "{{Phenotype/Hirsutism/Forehead/HPO_0011335}}" "{{Phenotype/Blepharophimosis/HPO_0000581}}" "{{Phenotype/Facial/Lips}}" "{{Phenotype/Facial/Micrognathia/HPO_0000347}}" "{{Phenotype/Neck/Webbed/HPO_0000465}}" "{{Phenotype/Laryngomalacia/HPO_0001601}}" "{{Phenotype/Thorax/Bell_shaped/HPO_0001591}}" "{{Phenotype/Ribs/Coat_hanger/HPO_0006665}}" "{{Phenotype/Diastasis_recti/HPO_0001540}}" "{{Phenotype/Hip/Coxa_valga/HPO_0002673}}" "{{Phenotype/Orbits/Shallow/HPO_0000586}}" "{{Phenotype/Ossification/Ectopic/HPO_0011986}}" "{{Phenotype/Hair/Alopecia}}" "{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}" "{{Phenotype/Eye/Eyelashes}}" "{{Phenotype/Kidney/Disease}}" "{{Phenotype/Cysts}}" "{{Phenotype/Aneurysm}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Hematuria/HPO_0000790}}" "{{Phenotype/Nephrolithiasis/HPO_0000787}}" "{{Phenotype/Disease/Status}}" "{{Phenotype/Kidney/Size}}" "{{Phenotype/Dilatation}}" "{{Phenotype/Sleep}}" "{{Phenotype/Eye/Pupil}}" "{{Phenotype/Umbilicus}}" "{{Phenotype/Eye}}" "{{Phenotype/Creatinine/Level}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Protein/F8_Ag}}" "{{Phenotype/Protein/F8_C/Stage1}}" "{{Phenotype/Protein/F8_C/Stage2}}" "{{Phenotype/Protein/FAssay_ratio}}" "{{Phenotype/Immunology/Auto_antibodies}}" "{{Phenotype/Severity}}" "{{Phenotype/Abnormality}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Inclusion}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/Lens/Cataract}}" "{{Phenotype/Head/Fontanel}}" "{{Phenotype/Eye/Ball}}" "{{Phenotype/Fistula}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/BCells}}" "{{Phenotype/BCells_surf_Ig}}" "{{Phenotype/CD19}}" "{{Phenotype/CD20}}" "{{Phenotype/Immunoglobulin/IgA}}" "{{Phenotype/Immunoglobulin/IgE}}" "{{Phenotype/Immunoglobulin/IgG}}" "{{Phenotype/Immunoglobulin/IgG/IgG1}}" "{{Phenotype/Immunoglobulin/IgG/IgG2}}" "{{Phenotype/Immunoglobulin/IgG/IgG3}}" "{{Phenotype/Immunoglobulin/IgG/IgG4}}" "{{Phenotype/Immunoglobulin/IgM}}" "{{Phenotype/Enzyme/Kinase}}" "{{Phenotype/CD3}}" "{{Phenotype/CD4}}" "{{Phenotype/CD8}}" "{{Phenotype/Calcification}}" "{{Phenotype/Ion_Homeostasis}}" "{{Phenotype/Hormones}}" "{{Phenotype/Vitamin}}" "{{Phenotype/Protein/Multimer_profile}}" "{{Phenotype/DTI_Tractography}}" "{{Phenotype/Diagnosis/Criteria}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Reproduction/Abnormal/Physiology}}" "{{Phenotype/Testis/Abnormal}}" "{{Phenotype/Eye/Movement}}" "{{Phenotype/Skin}}" "{{Phenotype/Finger_Toe/Abnormal}}" "{{Phenotype/Urine}}" "{{Phenotype/Hair/Pigmentation}}" "{{Phenotype/Histology}}" "0000037233" "00198" "00050621" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "Unknown" "" "global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060494" "00049" "00080925" "01758" "9" "00006" "2016-09-07 13:24:08" "" "" "Familial, autosomal recessive" "" "Salla disease (OMIM:604369)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000050566" "00050621" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081037" "00080925" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081037" "SLC17A5" ## 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 = 20 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "0000016431" "0" "99" "6" "74354327" "74354327" "subst" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000001" "g.74354327C>G" "" "{PMID:Aula et al. 2000:10947946}" "" "cDNA 95-1G>C: Removes splice site, deletion of exon 2 (95–291del)" "1 Swedish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73644604C>G" "" "0000016432" "0" "99" "6" "74354306" "74354306" "subst" "0" "0.000384438" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 19:04:32" "SLC17A5_000002" "g.74354306G>A" "0/100 FIN CON" "{PMID:Verheijen et al. 1999:10581036}, {PMID:Aula et al. 2000:10947946}, {PMID:Varho et al. 2002:11992753}, {PMID:Linnakivi et al. 2003:12592494}, {PMID:Martin et al. 2003:12794687}, {PMID:Strauss et al. 2005:16158439}" "" "R39C, in loop before TM domain 1" "Finnish major SD mutation: >100 Finnish SD patients (most hom) and also 14 Swedish SD patients (most hom). In addition, British, Italian, Dutch, German, American and Old Order Mennonite SD patients." "SUMMARY record" "yes" "rs80338794" "" "" "" "g.73644583G>A" "" "0000016433" "21" "77" "6" "74320156" "74320156" "subst" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 19:04:32" "SLC17A5_000003" "g.74320156C>T" "" "{PMID:Kleta et al. 2001:15172001}" "" "c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region" "1 Caucasian SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73610433C>T" "" "0000016434" "11" "99" "6" "74354130" "74354130" "subst" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 19:04:32" "SLC17A5_000004" "g.74354130C>T" "" "{PMID:Kleta et al. 2001:15172001}" "" "c291G>A" "1 Caucasian SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73644407C>T" "" "0000016435" "0" "99" "6" "74348135" "74351647" "del" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000005" "g.74348135_74351647del" "" "{PMID:Aula et al. 2000:10947946}" "" "292–611del:deletion of exons 3-4" "1 German SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73638412_73641924del" "" "0000016436" "0" "99" "6" "74351630" "74351630" "subst" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000006" "g.74351630C>T" "" "{PMID:Aula et al. 2000:10947946}" "" "309G>A, W103X" "1 Swedish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73641907C>T" "" "0000016437" "0" "99" "6" "74351533" "74351533" "subst" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000007" "g.74351533T>C" "" "{PMID:Aula et al. 2000:10947946}, {PMID:Biancheri et al. 2005:16170568}" "" "406A>G, K136E" "1 Finnish SD patient (com-het), 1 Italian SD patient (hom)" "SUMMARY record" "yes" "rs80338795" "" "" "" "g.73641810T>C" "" "0000016438" "0" "99" "6" "74351432" "74351432" "del" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000008" "g.74351432delT" "" "{PMID:Linnakivi et al. 2003:12592494}" "" "del 507A" "1 Finnish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73641709delT" "" "0000016439" "0" "99" "6" "74345105" "74348221" "del" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000009" "g.74345105_74348221del" "" "{PMID:Varho et al. 2002:11992753}, {PMID:Aula et al. 2000:10947946}" "" "526–819del: del exons 4–6; del (525-818): del exons 4-6" "4 Finnish SD patients (com-het)" "SUMMARY record" "yes" "" "" "" "" "" "" "0000016440" "0" "99" "6" "74345205" "74345205" "subst" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000010" "g.74345205C>T" "" "{PMID:Aula et al. 2000:10947946}" "" "719G>A, W240X" "1 Finnish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73635482C>T" "" "0000016441" "0" "99" "6" "74345108" "74345122" "del" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000011" "g.74345108_74345122del" "" "{PMID:Biancheri et al. 2002:12121352}" "" "15 base-pair deletion (802–816) in exon 6" "1 Italian SD patient (het); (previously found only in ISSD patients)" "SUMMARY record" "yes" "" "" "" "" "g.73635385_73635399del" "" "0000016442" "3" "77" "6" "74325166" "74325166" "subst" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 19:04:32" "SLC17A5_000012" "g.74325166C>T" "0/50 BED CON" "{PMID:Landau et al. 2004:15172005}" "" "983G>A nucleotide change in exon 8" "1 Bedouin SD family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.73615443C>T" "" "0000016443" "0" "99" "6" "74325141" "74325142" "del" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000013" "g.74325141_74325142delTA" "" "{PMID:Aula et al. 2000:10947946}, {PMID:Varho et al. 2002:11992753}" "" "2-base pair deletion (1007-1008)" "5 Finnish SD patients (com-het) and 1 Swedish SD patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73615418_73615419delTA" "" "0000016444" "0" "99" "6" "74320243" "74320244" "del" "0" "0" "00015" "9" "00015" "2012-11-15 14:02:15" "00006" "2017-05-05 18:33:04" "SLC17A5_000014" "g.74320243_74320244delAC" "" "{PMID:Aula et al. 2000:10947946}" "" "1138–1139del: Frameshift, 7 novel amino acids, premature stop" "1 British SD family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.73610520_73610521delAC" "" "0000039756" "0" "77" "6" "74351439" "74351439" "subst" "0" "0" "00015" "9" "00015" "2014-07-26 17:45:37" "00006" "2017-05-05 18:33:04" "SLC17A5_000015" "g.74351439A>G" "" "{PMID:Couce et al. 2014:24993898}" "" "" "1 Spanish patient (com-het) with SD" "SUMMARY record" "yes" "" "0" "" "" "g.73641716A>G" "" "0000039757" "0" "77" "6" "74331587" "74331587" "subst" "0" "0" "00015" "9" "00015" "2014-07-26 17:50:03" "00006" "2017-05-05 18:33:04" "SLC17A5_000016" "g.74331587A>C" "" "{PMID:Couce et al. 2014:24993898}, {PMID:Aula et al. 2000:10947946}" "" "" "1 Spanish patient (com-het) with SD, previously found in one French ISSD patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.73621864A>C" "" "0000079546" "21" "90" "6" "73709065" "76815249" "del" "33" "0" "00006" "9" "00006" "2015-09-27 16:16:40" "00000" "2018-03-07 06:40:55" "KHDC3L_000005" "g.73709065_76815249del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "Germline" "" "" "0" "" "" "" "" "0000130123" "3" "70" "6" "74354305" "74354305" "subst" "33" "0" "01758" "9" "00006" "2016-09-07 13:24:08" "00000" "2016-09-13 19:34:25" "SLC17A5_000017" "g.74354305C>T" "" "Trujillano et al., submitted" "" "" "" "Germline" "" "" "0" "" "" "g.73644582C>T" "" "0000298239" "0" "90" "6" "74354306" "74354306" "subst" "33" "0.000384438" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:01:21" "SLC17A5_000002" "g.74354306G>A" "" "" "" "SLC17A5:c.115C>T (R39C)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000308234" "0" "90" "6" "74354306" "74354306" "subst" "33" "0.000384438" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 02:01:23" "SLC17A5_000002" "g.74354306G>A" "" "" "" "SLC17A5:c.115C>T (R39C)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" ## 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. ## Count = 20 "{{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}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Effect/In_Vitro}}" "{{VariantOnTranscript/Haplotype}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/PolyPhen/Score}}" "{{VariantOnTranscript/Classification}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/Protein/CodonNr}}" "{{VariantOnTranscript/Exon_old}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Screen/Method}}" "{{VariantOnTranscript/DNA/Legacy}}" "{{VariantOnTranscript/Protein/Legacy}}" "{{VariantOnTranscript/FunctionalAnalysis}}" "{{VariantOnTranscript/FunctionalAnalysis/Technique}}" "{{VariantOnTranscript/Predict/MutationTaster}}" "{{VariantOnTranscript/Grantham}}" "{{VariantOnTranscript/Predict/AGVGD}}" "{{VariantOnTranscript/Codon_change}}" "{{VariantOnTranscript/IDbase_Accession}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/CpG}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}" "{{VariantOnTranscript/Conservation}}" "{{VariantOnTranscript/Predict/Splice}}" "{{VariantOnTranscript/FunctionalPrediction}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/Protein/Stain}}" "{{VariantOnTranscript/Predict/CADD}}" "0000016431" "00000286" "99" "95" "-1" "95" "-1" "c.95-1G>C" "r.95_291del" "p.Ala32Glyfs*2" "1i" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016432" "00000286" "99" "115" "0" "115" "0" "c.115C>T" "r.115c>t" "p.Arg39Cys" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016433" "00000286" "77" "1226" "0" "1226" "0" "c.1226G>A" "r.1226g>a" "p.Gly409Glu" "9" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016434" "00000286" "99" "291" "0" "291" "0" "c.291G>A" "r.95_291del" "p.Ala32Glyfs*2" "2" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016435" "00000286" "99" "292" "0" "613" "0" "c.292_613del" "r.292_613del" "p.(Gly98Glufs*7)" "2i_4i" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016436" "00000286" "99" "309" "0" "309" "0" "c.309G>A" "r.309g>a" "p.Trp103*" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016437" "00000286" "99" "406" "0" "406" "0" "c.406A>G" "r.406a>g" "p.Lys136Glu" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016438" "00000286" "99" "507" "0" "507" "0" "c.507delA" "r.507dela" "p.(Leu170*)" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016439" "00000286" "99" "526" "0" "819" "0" "c.526_819del" "r.526_819del" "p.Gly176_Gln273del" "3i_6i" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016440" "00000286" "99" "719" "0" "719" "0" "c.719G>A" "r.719g>a" "p.Trp240*" "6" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016441" "00000286" "99" "802" "0" "816" "0" "c.802_816del" "r.802_816del" "p.Ser268_Asn272del" "6" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016442" "00000286" "77" "983" "0" "983" "0" "c.983G>A" "r.983g>a" "p.Gly328Glu" "8" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016443" "00000286" "99" "1007" "0" "1008" "0" "c.1007_1008delTA" "r.1007_1008delta" "p.Leu336Trpfs*14" "8" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016444" "00000286" "99" "1138" "0" "1139" "0" "c.1138_1139delGT" "r.1138_1139delgt" "p.Val380Serfs*8" "9" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039756" "00000286" "77" "500" "0" "500" "0" "c.500T>C" "r.(?)" "p.(Leu167Pro)" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000039757" "00000286" "77" "918" "0" "918" "0" "c.918T>G" "r.(?)" "p.(Tyr306*)" "8" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079546" "00000286" "00" "-2451640" "0" "597223" "0" "c.-2451640_*595735del" "r.0?" "p.0?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130123" "00000286" "70" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39His)" "" "" "" "" "" "" "" "ACMG 4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000298239" "00000286" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308234" "00000286" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Arg39Cys)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050566" "0000079546" "0000081037" "0000130123"