Unique variants in the SLC17A5 gene

Information The variants shown are described using the NM_012434.4 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-2451640_*595735del r.0? p.0? - pathogenic g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.-174dup r.(?) p.(=) - benign g.74363787dup g.73654064dup SLC17A5(NM_012434.4):c.-174dupG - SLC17A5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.85G>A r.(?) p.(Ala29Thr) - likely benign g.74363525C>T - SLC17A5(NM_012434.4):c.85G>A (p.(Ala29Thr)) - SLC17A5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 1i c.95-1G>C r.95_291del p.Ala32Glyfs*2 - pathogenic g.74354327C>G g.73644604C>G cDNA 95-1G>C: Removes splice site, deletion of exon 2 (95–291del) - SLC17A5_000001 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/+, +/. 4 2 c.115C>T r.(?), r.115c>t p.(Arg39Cys), p.Arg39Cys - pathogenic g.74354306G>A g.73644583G>A R39C, in loop before TM domain 1, 1 more item - SLC17A5_000002 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs80338794 CLASSIFICATION record, Germline, SUMMARY record yes 0/100 FIN CON, 1/2795 individuals - - - Anne Polvi, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Mohammed Faruq
+/., +?/. 2 - c.116G>A r.(?) p.(Arg39His) ACMG likely pathogenic, pathogenic g.74354305C>T g.73644582C>T - - SLC17A5_000017 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano, Muhammad Umair
-/. 1 - c.246G>A r.(?) p.(Ala82=) - benign g.74354175C>T g.73644452C>T SLC17A5(NM_012434.4):c.246G>A (p.A82=) - SLC17A5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 2 c.291G>A r.95_291del, r.spl? p.(Thr97=), p.Ala32Glyfs*2 - pathogenic, pathogenic (recessive) g.74354130C>T g.73644407C>T c291G>A - SLC17A5_000004 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001, PubMed: Lionel 2018 - - Germline, SUMMARY record yes - - - - Johan den Dunnen, Anne Polvi
-/. 1 - c.292-22T>C r.(=) p.(=) - benign g.74351669A>G g.73641946A>G SLC17A5(NM_012434.4):c.292-22T>C - SLC17A5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 2i_4i c.293_613+1del r.292_613del p.(Gly98Glufs*7) - pathogenic g.74348137_74351649del g.73638414_73641926del 292–611del:deletion of exons 3-4 - SLC17A5_000005 1 German SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 3 c.309G>A r.309g>a p.Trp103* - pathogenic g.74351630C>T g.73641907C>T 309G>A, W103X - SLC17A5_000006 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.360C>T r.(?) p.(Ile120=) - likely benign g.74351579G>A g.73641856G>A SLC17A5(NM_012434.4):c.360C>T (p.I120=) - SLC17A5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 3 c.406A>G r.406a>g p.Lys136Glu - pathogenic g.74351533T>C g.73641810T>C 406A>G, K136E - SLC17A5_000007 1 Finnish SD patient (com-het), 1 Italian SD patient (hom) PubMed: Aula et al. 2000, PubMed: Biancheri et al. 2005 - rs80338795 SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.481G>A r.(?) p.(Val161Ile) - VUS g.74351458C>T g.73641735C>T SLC17A5(NM_012434.4):c.481G>A (p.(Val161Ile)) - SLC17A5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 3 c.500T>C r.(?) p.(Leu167Pro) - likely pathogenic g.74351439A>G g.73641716A>G - - SLC17A5_000015 1 Spanish patient (com-het) with SD PubMed: Couce et al. 2014 - - SUMMARY record yes - - - - Anne Polvi
+/+, +/. 2 3 c.507del r.(?), r.507dela p.(Leu170*), p.(Leu170Ter) - pathogenic g.74351432del g.73641709del del 507A, SLC17A5(NM_012434.4):c.507delA (p.L170*) - SLC17A5_000008, SLC17A5_000026 1 Finnish SD patient (com-het), VKGL data sharing initiative Nederland PubMed: Linnakivi et al. 2003 - - CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi, VKGL-NL_Rotterdam
+/+ 1 3i_6i c.526_819del r.526_819del p.Gly176_Gln273del - pathogenic g.74345105_74348221del - 526–819del: del exons 4–6; del (525-818): del exons 4-6 - SLC17A5_000009 1 more item PubMed: Varho et al. 2002, PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.533del r.(?) p.(Thr178AsnfsTer34) - pathogenic g.74348215del g.73638492del SLC17A5(NM_012434.4):c.533delC (p.T178Nfs*34) - SLC17A5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.606A>G r.(?) p.(Ser202=) - benign g.74348142T>C g.73638419T>C SLC17A5(NM_012434.4):c.606A>G (p.S202=) - SLC17A5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.704C>T r.(?) p.(Thr235Ile) - likely benign g.74345220G>A - SLC17A5(NM_012434.4):c.704C>T (p.T235I) - SLC17A5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 6 c.719G>A r.(?), r.719g>a p.(Trp240Ter), p.Trp240* - pathogenic g.74345205C>T g.73635482C>T 719G>A, W240X, SLC17A5(NM_012434.4):c.719G>A (p.W240*) - SLC17A5_000010 1 Finnish SD patient (com-het), VKGL data sharing initiative Nederland PubMed: Aula et al. 2000 - - CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi, VKGL-NL_Rotterdam
+?/. 1 - c.723del r.(?) p.(Leu242PhefsTer6) - likely pathogenic g.74345203del - - - SLC17A5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.738_741del r.(?) p.(Ser249Thrfs*21) - likely pathogenic (recessive) g.74345183_74345186del g.73635460_73635463del NM_012434.4:c.744_747del:p.(Ser249Thrfs*21) - SLC17A5_000044 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+?/. 1 - c.762dup r.(?) p.(His255ThrfsTer8) - likely pathogenic g.74345166dup g.73635443dup SLC17A5(NM_012434.4):c.762dupA (p.H255Tfs*8) - SLC17A5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 6 c.802_816del r.(?), r.802_816del p.(Ser268_Asn272del), p.Ser268_Asn272del - pathogenic g.74345109_74345123del g.73635386_73635400del 15 base-pair deletion (802–816) in exon 6, 1 more item - SLC17A5_000011 1 Italian SD patient (het); (previously found only in ISSD patients), 1 more item PubMed: Biancheri et al. 2002 - - CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi, VKGL-NL_Rotterdam
+/. 1 - c.819+1G>A r.spl p.? - pathogenic (recessive) g.74345104C>T g.73635381C>T - - SLC17A5_000029 - PubMed: Lionel 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.820-3C>T r.spl? p.? - likely benign g.74331688G>A g.73621965G>A SLC17A5(NM_012434.4):c.820-3C>T - SLC17A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.842C>T r.(?) p.(Pro281Leu) - VUS g.74331663G>A - SLC17A5(NM_012434.4):c.842C>T (p.P281L) - SLC17A5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.886G>A r.(?) p.(Val296Ile) - likely benign g.74331619C>T g.73621896C>T SLC17A5(NM_012434.4):c.886G>A (p.(Val296Ile)) - SLC17A5_000035 109 heterozygous; Clinindb (India), 5 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs16883930 CLASSIFICATION record, Germline - 109/2795 individuals, 5/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
?/. 2 - c.899C>T r.(?) p.(Ser300Phe) - VUS g.74331606G>A g.73621883G>A SLC17A5(NM_012434.4):c.899C>T (p.S300F) - SLC17A5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/+? 1 8 c.918T>G r.(?) p.(Tyr306*) - likely pathogenic g.74331587A>C g.73621864A>C - - SLC17A5_000016 1 Spanish patient (com-het) with SD, previously found in one French ISSD patient (com-het) PubMed: Couce et al. 2014, PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.957C>A r.(?) p.(Ile319=) - likely benign g.74331548G>T g.73621825G>T SLC17A5(NM_012434.4):c.957C>A (p.I319=) - SLC17A5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 8 c.983G>A r.983g>a p.Gly328Glu - likely pathogenic g.74325166C>T g.73615443C>T 983G>A nucleotide change in exon 8 - SLC17A5_000012 1 Bedouin SD family (hom) PubMed: Landau et al. 2004 - - SUMMARY record yes 0/50 BED CON - - - Anne Polvi
+/. 1 - c.990dup r.(?) p.(Ser331IlefsTer20) - pathogenic g.74325159dup g.73615436dup SLC17A5(NM_012434.4):c.990dupA (p.S331Ifs*20) - SLC17A5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 8 c.1007_1008del r.1007_1008delta p.Leu336Trpfs*14 - pathogenic g.74325141_74325142del g.73615418_73615419del 2-base pair deletion (1007-1008) - SLC17A5_000013 5 Finnish SD patients (com-het) and 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000, PubMed: Varho et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.1111+1G>A r.spl? p.? - pathogenic g.74325037C>T g.73615314C>T SLC17A5(NM_012434.4):c.1111+1G>A - SLC17A5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1111+7G>A r.(=) p.(=) - benign g.74325031C>T g.73615308C>T SLC17A5(NM_012434.4):c.1111+7G>A - SLC17A5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 2 9 c.1138_1139del r.(?), r.1138_1139delgt p.(Val380SerfsTer8), p.Val380Serfs*8 - pathogenic g.74320243_74320244del g.73610520_73610521del 1138–1139del: Frameshift, 7 novel amino acids, premature stop - SLC17A5_000014 1 British SD family (com-het), VKGL data sharing initiative Nederland PubMed: Aula et al. 2000 - - CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi, VKGL-NL_Nijmegen
?/. 1 - c.1177G>A r.(?) p.(Val393Ile) - VUS g.74320205C>T - SLC17A5(NM_012434.4):c.1177G>A (p.V393I) - SLC17A5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1192A>G r.(?) p.(Ile398Val) - VUS g.74320190T>C g.73610467T>C - - SLC17A5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 9 c.1226G>A r.1226g>a p.Gly409Glu - likely pathogenic g.74320156C>T g.73610433C>T c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region - SLC17A5_000003 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.1250T>C r.(?) p.(Ile417Thr) - VUS g.74320132A>G - SLC17A5(NM_012434.4):c.1250T>C (p.I417T) - SLC17A5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1259C>T r.(?) p.(Ser420Leu) - VUS g.74320123G>A g.73610400G>A SLC17A5(NM_012434.4):c.1259C>T (p.(Ser420Leu)) - SLC17A5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1324G>A r.(?) p.(Val442Ile) - likely benign g.74310100C>T g.73600377C>T SLC17A5(NM_012434.4):c.1324G>A (p.V442I), SLC17A5(NM_012434.5):c.1324G>A (p.V442I) - SLC17A5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.1351-23G>A r.(=) p.(=) - benign g.74304960C>T g.73595237C>T SLC17A5(NM_012434.4):c.1351-23G>A - SLC17A5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query