All variants in the SLC13A5 gene

Information The variants shown are described using the NM_177550.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

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     
+?/. 2 c.103-1G>A r.spl p.? - pathogenic (recessive) g.6610476C>T g.6707157C>T - - SLC13A5_000006 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+?/. 2 c.103-1G>A r.spl p.? - pathogenic (recessive) g.6610476C>T g.6707157C>T - - SLC13A5_000006 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
-?/. - c.121G>A r.(?) p.(Val41Ile) - likely benign g.6610457C>T g.6707138C>T SLC13A5(NM_177550.4):c.121G>A (p.V41I) - SLC13A5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.203C>A r.(?) p.(Pro68Gln) - pathogenic (recessive) g.6610375G>T g.6707056G>T - - SLC13A5_000005 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+?/. 2 c.203C>A r.(?) p.(Pro68Gln) - pathogenic (recessive) g.6610375G>T g.6707056G>T - - SLC13A5_000005 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+/. - c.231+2T>G r.spl p.? ACMG pathogenic g.6610345A>C g.6707026A>C - - SLC13A5_000024 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.368+7A>G r.(=) p.(=) - likely benign g.6609954T>C - SLC13A5(NM_177550.5):c.368+7A>G - SLC13A5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.369-17C>T r.(=) p.(=) - likely benign g.6607392G>A g.6704073G>A SLC13A5(NM_177550.4):c.369-17C>T - SLC13A5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 4 c.425C>T r.(?) p.(Thr142Met) - pathogenic (recessive) g.6607319G>A g.6704000G>A - - SLC13A5_000004 - PubMed: Schossig 2017 - - Germline yes ExAC: 0.00001705 - - - Elisabeth Maurer
+?/. 4 c.425C>T r.(?) p.(Thr142Met) - pathogenic (recessive) g.6607319G>A g.6704000G>A - - SLC13A5_000004 - PubMed: Schossig 2017 - - Germline yes ExAC: 0.00001705 - - - Elisabeth Maurer
+?/. 4 c.425C>T r.(?) p.(Thr142Met) - pathogenic (recessive) g.6607319G>A g.6704000G>A - - SLC13A5_000004 to Brain PubMed: Schossig 2017 - - Germline yes ExAC: 0.00001705 - - - Elisabeth Maurer
-?/. - c.426G>A r.(?) p.(Thr142=) - likely benign g.6607318C>T - SLC13A5(NM_177550.4):c.426G>A (p.T142=) - SLC13A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.426G>A r.(?) p.(Thr142=) - likely benign g.6607318C>T - SLC13A5(NM_177550.4):c.426G>A (p.T142=) - SLC13A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 4 c.434C>A r.(?) p.(Thr145Lys) - pathogenic (recessive) g.6607310G>T g.6703991G>T - - SLC13A5_000003 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+?/. 4 c.434C>A r.(?) p.(Thr145Lys) - pathogenic (recessive) g.6607310G>T g.6703991G>T - - SLC13A5_000003 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+?/. 5 c.655G>A r.(?) p.(Gly219Arg) - pathogenic (recessive) g.6606350C>T g.6703031C>T - - SLC13A5_000002 - PubMed: Schossig 2017 - - Germline yes ExAC: 0.0002060 - - - Elisabeth Maurer
+?/. 5 c.655G>A r.(?) p.(Gly219Arg) - pathogenic (recessive) g.6606350C>T g.6703031C>T - - SLC13A5_000002 - PubMed: Schossig 2017 - - Germline yes ExAC: 0.0002060 - - - Elisabeth Maurer
+?/. 5 c.655G>A r.(?) p.(Gly219Arg) - pathogenic (recessive) g.6606350C>T g.6703031C>T - - SLC13A5_000002 - PubMed: Schossig 2017 - - Germline yes ExAC: 0.0002060 - - - Elisabeth Maurer
+/. - c.655G>A r.(?) p.(Gly219Arg) ACMG pathogenic g.6606350C>T g.6703031C>T - - SLC13A5_000002 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/. 5 c.655G>A r.(?) p.(Gly219Arg) - pathogenic g.6606350C>T g.6703031C>T - - SLC13A5_000002 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.655G>A r.(?) p.(Gly219Arg) - pathogenic g.6606350C>T - SLC13A5(NM_177550.5):c.655G>A (p.(Gly219Arg), p.G219R) - SLC13A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.655G>A r.(?) p.(Gly219Arg) - pathogenic (recessive) g.6606350C>T g.6703031C>T - - SLC13A5_000002 - PubMed: Thevenon 2016, PubMed: Nambot 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.655G>A r.(?) p.(Gly219Arg) - pathogenic g.6606350C>T - SLC13A5(NM_177550.5):c.655G>A (p.(Gly219Arg), p.G219R) - SLC13A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.680C>T r.(?) p.(Thr227Met) - pathogenic (recessive) g.6606325G>A g.6703006G>A - - SLC13A5_000008 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+/. 5 c.680C>T r.(?) p.(Thr227Met) - pathogenic g.6606325G>A g.6703006G>A - - SLC13A5_000008 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - Johan den Dunnen
+?/. - c.680C>T r.(?) p.(Thr227Met) - likely pathogenic g.6606325G>A g.6703006G>A SLC13A5(NM_177550.4):c.680C>T (p.T227M) - SLC13A5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.680C>T r.(?) p.(Thr227Met) - likely pathogenic g.6606325G>A g.6703006G>A SLC13A5(NM_177550.4):c.680C>T (p.T227M) - SLC13A5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.680C>T r.(?) p.(Thr227Met) - likely pathogenic g.6606325G>A - SLC13A5(NM_177550.4):c.680C>T (p.T227M) - SLC13A5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.680C>T r.(?) p.(Thr227Met) - pathogenic (recessive) g.6606325G>A g.6703006G>A - - SLC13A5_000008 - PubMed: Thevenon 2016, PubMed: Nambot 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.690C>T r.(?) p.(Asn230=) - likely benign g.6606315G>A g.6702996G>A SLC13A5(NM_177550.4):c.690C>T (p.N230=) - SLC13A5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.991T>A r.(?) p.(Phe331Ile) - VUS g.6599109A>T - SLC13A5(NM_177550.5):c.991T>A (p.(Phe331Ile)) - SLC13A5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 7 c.997C>T r.(?) p.(Arg333*) - pathogenic (recessive) g.6599103G>A g.6695784G>A - - SLC13A5_000001 - PubMed: Schossig 2017 - - Germline yes ExAC: 0.00001649 - - - Elisabeth Maurer
+?/. 7 c.997C>T r.(?) p.(Arg333*) - pathogenic (recessive) g.6599103G>A g.6695784G>A - - SLC13A5_000001 - PubMed: Schossig 2017 - - Germline yes ExAC: 0.00001649 - - - Elisabeth Maurer
+/. 7 c.997C>T r.(?) p.(Arg333*) - pathogenic g.6599103G>A g.6695784G>A - - SLC13A5_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.1056-1G>A r.spl? p.? - pathogenic g.6597517C>T g.6694198C>T SLC13A5(NM_177550.5):c.1056-1G>A - SLC13A5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1157-30_1157-17del r.(=) p.(=) - benign g.6596536_6596549del g.6693217_6693230del SLC13A5(NM_177550.4):c.1157-30_1157-17delGTGTGTGTGTGTGT - SLC13A5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1157-26_1157-17del r.(=) p.(=) - likely benign g.6596540_6596549del g.6693221_6693230del SLC13A5(NM_177550.4):c.1157-26_1157-17delGTGTGTGTGT - SLC13A5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1157-20_1157-17dup r.(=) p.(=) - benign g.6596546_6596549dup g.6693227_6693230dup SLC13A5(NM_177550.4):c.1157-22_1157-19dupGTGT - SLC13A5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1157-18_1157-17del r.(=) p.(=) - likely benign g.6596548_6596549del g.6693229_6693230del SLC13A5(NM_177550.4):c.1157-18_1157-17delGT - SLC13A5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1227dup r.(?) p.(Ile410Hisfs*13) ACMG likely pathogenic g.6596411dup g.6693092dup - - SLC13A5_000009 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
?/. - c.1246G>T r.(?) p.(Gly416Cys) - VUS g.6596392C>A - SLC13A5(NM_177550.5):c.1246G>T (p.(Gly416Cys)) - SLC13A5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1275G>C r.(?) p.(Glu425Asp) - likely pathogenic g.6596363C>G g.6693044C>G - - SLC13A5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 10 c.1276-1G>A r.spl p.? - pathogenic (recessive) g.6594260C>T g.6690941C>T - - SLC13A5_000007 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+?/. 10 c.1276-1G>A r.spl p.? - pathogenic (recessive) g.6594260C>T g.6690941C>T - - SLC13A5_000007 - PubMed: Schossig 2017 - - Germline yes - - - - Elisabeth Maurer
+?/. - c.1280C>T r.(?) p.(Ser427Leu) - likely pathogenic g.6594255G>A g.6690936G>A SLC13A5(NM_177550.4):c.1280C>T (p.S427L) - SLC13A5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1280C>T r.(?) p.(Ser427Leu) - likely pathogenic g.6594255G>A g.6690936G>A SLC13A5(NM_177550.4):c.1280C>T (p.S427L) - SLC13A5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1395C>T r.(?) p.(Asn465=) - likely benign g.6594140G>A - SLC13A5(NM_177550.4):c.1395C>T (p.N465=) - SLC13A5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1463T>C r.(?) p.(Leu488Pro) - likely pathogenic (recessive) g.6589632A>G g.6686313A>G - - SLC13A5_000026 - PubMed: Thevenon 2016, PubMed: Nambot 2018 - - Germline - - - - - Johan den Dunnen
+/. 11 c.1475T>C r.(?) p.(Leu492Pro) - pathogenic g.6590948A>G g.6687629A>G - - SLC13A5_000010 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - Germline - - - - - Johan den Dunnen
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