Full data view for gene SLC17A5

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

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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./. - c.-2451640_*595735del - r.0? p.0? Maternal (confirmed) g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/+ 1i c.95-1G>C - r.95_291del p.Ala32Glyfs*2 Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.115C>T - r.115c>t p.Arg39Cys Unknown g.74354306G>A g.73644583G>A R39C, in loop before TM domain 1 - SLC17A5_000002 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. PubMed: Verheijen et al. 1999, PubMed: Aula et al. 2000, PubMed: Varho et al. 2002, PubMed: Linnakivi et al. 2003, PubMed: Martin et al. 2003, PubMed: Strauss et al. 2005 - rs80338794 SUMMARY record yes 0/100 FIN CON - - - - - - - - - - - - - - - - - - - - -
+/. - c.115C>T pathogenic r.(?) p.(Arg39Cys) Unknown g.74354306G>A - SLC17A5:c.115C>T (R39C) - SLC17A5_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.115C>T pathogenic r.(?) p.(Arg39Cys) Unknown g.74354306G>A - SLC17A5:c.115C>T (R39C) - SLC17A5_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.116G>A ACMG 4 r.(?) p.(Arg39His) Both (homozygous) g.74354305C>T g.73644582C>T - - SLC17A5_000017 - Trujillano et al., submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SD - Trujillano et al., submitted unaffected parents - - - - - 0 - - 1 Daniel Trujillano
-/. - c.246G>A benign r.(=) p.(=) Unknown g.74354175C>T - SLC17A5:c.246G>A (=) - SLC17A5_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.291G>A - r.95_291del p.Ala32Glyfs*2 Paternal (confirmed) g.74354130C>T g.73644407C>T c291G>A - SLC17A5_000004 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i_4i c.292_613del - r.292_613del p.(Gly98Glufs*7) Unknown g.74348135_74351647del g.73638412_73641924del 292–611del:deletion of exons 3-4 - SLC17A5_000005 1 German SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.309G>A - r.309g>a p.Trp103* Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.406A>G - r.406a>g p.Lys136Glu Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>A VUS - - Unknown g.74351458C>T - SLC17A5:NM_012434.4:c.481G>A - SLC17A5_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.500T>C - r.(?) p.(Leu167Pro) Unknown g.74351439A>G g.73641716A>G - - SLC17A5_000015 1 Spanish patient (com-het) with SD PubMed: Couce et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.507del pathogenic r.(?) p.(Leu170*) Unknown g.74351432del - SLC17A5:c.507delA (L170*) - SLC17A5_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.507delA - r.507dela p.(Leu170*) Unknown g.74351432delT g.73641709delT del 507A - SLC17A5_000008 1 Finnish SD patient (com-het) PubMed: Linnakivi et al. 2003 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i_6i c.526_819del - r.526_819del p.Gly176_Gln273del Unknown g.74345105_74348221del - 526–819del: del exons 4–6; del (525-818): del exons 4-6 - SLC17A5_000009 4 Finnish SD patients (com-het) PubMed: Varho et al. 2002, PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533del pathogenic r.(?) p.(Thr178Asnfs*34) Unknown g.74348215del - SLC17A5:c.533delC (T178Nfs*34) - SLC17A5_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.606A>G benign r.(=) p.(=) Unknown g.74348142T>C - SLC17A5:c.606A>G (=) - SLC17A5_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.719G>A - r.719g>a p.Trp240* Unknown g.74345205C>T g.73635482C>T 719G>A, W240X - SLC17A5_000010 1 Finnish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.719G>A pathogenic r.(?) p.(Trp240*) Unknown g.74345205C>T - SLC17A5:c.719G>A (W240*) - SLC17A5_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.802_816del - r.802_816del p.Ser268_Asn272del Unknown g.74345108_74345122del g.73635385_73635399del 15 base-pair deletion (802–816) in exon 6 - SLC17A5_000011 1 Italian SD patient (het); (previously found only in ISSD patients) PubMed: Biancheri et al. 2002 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.802_816del pathogenic r.(?) p.(Ser268_Asn272del) Unknown g.74345108_74345122del - SLC17A5:c.802_816delTCATCATTAAGAAAT (S268_N272del) - SLC17A5_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.820-3C>T likely benign r.spl? p.? Unknown g.74331688G>A - SLC17A5:c.820-3C>T - SLC17A5_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.918T>G - r.(?) p.(Tyr306*) Unknown 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 - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.983G>A - r.983g>a p.Gly328Glu Both (homozygous) 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 - - - - - - - - - - - - - - - - - - - - -
+/. - c.991_992insA pathogenic r.(?) p.(Ser331Tyrfs*20) Unknown g.74325157_74325158insT - SLC17A5:c.990dupA (S331Ifs*20) - SLC17A5_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1007_1008delTA - r.1007_1008delta p.Leu336Trpfs*14 Unknown g.74325141_74325142delTA g.73615418_73615419delTA 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 - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1111+1G>A pathogenic r.spl? p.? Unknown g.74325037C>T - SLC17A5:c.1111+1G>A - SLC17A5_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1111+7G>A benign r.(=) p.(=) Unknown g.74325031C>T - SLC17A5:c.1111+7G>A - SLC17A5_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1138_1139delGT - r.1138_1139delgt p.Val380Serfs*8 Unknown g.74320243_74320244delAC g.73610520_73610521delAC 1138–1139del: Frameshift, 7 novel amino acids, premature stop - SLC17A5_000014 1 British SD family (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.1226G>A - r.1226g>a p.Gly409Glu Maternal (confirmed) 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 - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1324G>A likely benign r.(?) p.(Val442Ile) Unknown g.74310100C>T - SLC17A5:c.1324G>A (V442I) - SLC17A5_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1351-23G>A benign r.(=) p.(=) Unknown g.74304960C>T - SLC17A5:c.1351-23G>A - SLC17A5_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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