Unique variants in the SLC5A5 gene

Information The variants shown are described using the NM_000453.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.-54C>T r.54c>u p.0 - likely pathogenic (recessive) g.17983075C>T - - - SLC5A5_000038 variant does not affect transcription efficiency or mRNA stability, reduced translation PubMed: Nicola 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.(698+1_840-1)? r.699_839del p.Asp233_Leu280delinsGlu - pathogenic g.(17986916_17988772)? - - - SLC5A5_000039 - PubMed: Liang 2005 - - Somatic - - - - - Johan den Dunnen
+/. 1 - c.176T>A r.(?) p.(Val59Glu) - pathogenic (recessive) g.17983304T>A - V59E - SLC5A5_000037 - PubMed: Fujiwara 2000 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.277G>C r.(?) p.(Gly93Arg) - pathogenic (recessive) g.17983405G>C - G93R - SLC5A5_000030 - PubMed: Kosugi 1998 ClinVar-RCV000008107 rs121909178 Germline - - - - - Johan den Dunnen
-/. 1 - c.357+18G>T r.(=) p.(=) - benign g.17983503G>T g.17872694G>T SLC5A5(NM_000453.2):c.357+18G>T - SLC5A5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.371G>A r.(?) p.(Arg124His) - pathogenic (recessive) g.17984960G>A - 718G>A (R124H) - SLC5A5_000036 - PubMed: Szinnai 2006 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.424-12C>A r.(=) p.(=) - benign g.17985291C>A g.17874482C>A SLC5A5(NM_000453.2):c.424-12C>A - SLC5A5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2i_7i c.442_970-162delins564_698+296inv r.(424_969del) p.(Met142_Gln323del) - pathogenic (recessive) g.17985321_17991512delins17986781_17987211inv - - - SLC5A5_000033 - PubMed: Kosugi 2002 ClinVar-RCV000008110 - Germline yes - - - - Johan den Dunnen
?/. 1 - c.471C>A r.(?) p.(Asn157Lys) - VUS g.17985350C>A g.17874541C>A SLC5A5(NM_000453.2):c.471C>A (p.N157K) - SLC5A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.476-20_476-19insCCTAAC r.(=) p.(=) - benign g.17985453_17985454insCCTAAC g.17874644_17874645insCCTAAC SLC5A5(NM_000453.2):c.476-20_476-19insCCTAAC - SLC5A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.476-19G>A r.(=) p.(=) - benign g.17985454G>A g.17874645G>A SLC5A5(NM_000453.2):c.476-19G>A - SLC5A5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.546C>T r.(?) p.(Gly182=) - benign g.17986763C>T g.17875954C>T SLC5A5(NM_000453.2):c.546C>T (p.G182=) - SLC5A5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.642C>T r.(?) p.(Gly214=) - likely benign g.17986859C>T - SLC5A5(NM_000453.2):c.642C>T (p.G214=) - SLC5A5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.672G>A r.(?) p.(Gln224=) - benign g.17986889G>A g.17876080G>A SLC5A5(NM_000453.2):c.672G>A (p.Q224=) - SLC5A5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.799C>G r.799c>g p.Gln267Glu - pathogenic (recessive) g.17988632C>G - Q267E - SLC5A5_000028 - PubMed: Pohlenz 1998 ClinVar-RCV000008105 rs121909176 Germline - - - - - Johan den Dunnen
+/. 1 - c.816C>A r.816c>a p.Cys272* - pathogenic (recessive) g.17988649C>A - C1163A (C272X) - SLC5A5_000027 - PubMed: Pohlenz 1997 - rs121909175 Germline - - - - - Johan den Dunnen
-/. 1 - c.839+11C>T r.(=) p.(=) - benign g.17988683C>T g.17877874C>T SLC5A5(NM_000453.2):c.839+11C>T - SLC5A5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.839+13G>A r.(=) p.(=) - benign g.17988685G>A g.17877876G>A SLC5A5(NM_000453.2):c.839+13G>A - SLC5A5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.861C>T r.(?) p.(Val287=) - benign g.17988794C>T g.17877985C>T SLC5A5(NM_000453.2):c.861C>T (p.V287=) - SLC5A5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.862G>A r.(?) p.(Gly288Ser) - VUS g.17988795G>A g.17877986G>A SLC5A5(NM_000453.2):c.862G>A (p.G288S) - SLC5A5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.1058+8C>T r.(=) p.(=) - benign g.17991770C>T g.17880961C>T SLC5A5(NM_000453.2):c.1058+8C>T - SLC5A5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 - c.1060A>C r.(?), r.(?)1060a>c, r.1060a>c p.(Thr354Pro), p.Thr354Pro - pathogenic (recessive) g.17992770A>C - T354P - SLC5A5_000026 - PubMed: Fujiwara 1997, PubMed: Fujiwara 2000, PubMed: Kosugi 1998, PubMed: Matsuda 1997 ClinVar-RCV000008103 rs121909174 Germline yes - - - - Johan den Dunnen
+/. 1 - c.1183G>A r.(?) p.(Gly395Arg) - pathogenic (recessive) g.17992969G>A - 1530G>A (G395R) - SLC5A5_000032 - PubMed: Kosugi 1999 ClinVar-RCV000008109 rs121909180 Germline yes - - - - Johan den Dunnen
+/. 1 - c.1206_1211del r.(?) p.(Ala403_Leu404del) - pathogenic (recessive) g.17992992_17992997del - 1206-1211delGTCGGC - SLC5A5_000035 - PubMed: Montanelli 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1316_1327delins1329+2_1329+11 r.1316_1330del p.Ala439_Pro443del - pathogenic (recessive) g.17994561_17994575delins17994578_17994587 g.17994563_17994574del - - SLC5A5_000034 - PubMed: Tonacchera 2003 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1326A>C r.(?) p.(Thr442=) - benign g.17994573A>C g.17883764A>C SLC5A5(NM_000453.2):c.1326A>C (p.T442=) - SLC5A5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1329+18A>G r.(=) p.(=) - benign g.17994594A>G g.17883785A>G SLC5A5(NM_000453.2):c.1329+18A>G - SLC5A5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1330-17G>T r.(=) p.(=) - benign g.17994642G>T g.17883833G>T SLC5A5(NM_000453.2):c.1330-17G>T - SLC5A5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1330-15C>T r.(=) p.(=) - benign g.17994644C>T g.17883835C>T SLC5A5(NM_000453.2):c.1330-15C>T - SLC5A5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1330-14G>T r.(=) p.(=) - benign g.17994645G>T g.17883836G>T SLC5A5(NM_000453.2):c.1330-14G>T - SLC5A5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1360G>A r.(?) p.(Ala454Thr) - likely benign g.17994689G>A g.17883880G>A SLC5A5(NM_000453.2):c.1360G>A (p.(Ala454Thr)) - SLC5A5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1418T>C r.(?) p.(Met473Thr) - likely benign g.17994747T>C g.17883938T>C SLC5A5(NM_000453.2):c.1418T>C (p.(Met473Thr)) - SLC5A5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1507G>A r.(?) p.(Asp503Asn) - benign g.17994836G>A g.17884027G>A SLC5A5(NM_000453.2):c.1507G>A (p.D503N) - SLC5A5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1517G>C r.(?) p.(Arg506Thr) - likely benign g.17994846G>C g.17884037G>C SLC5A5(NM_000453.2):c.1517G>C (p.R506T) - SLC5A5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1593C>G r.[1527_1593del,1593c>g] p.[Ser509Argfs*7,Tyr531*] - pathogenic (recessive) g.17999206C>G - - - SLC5A5_000029 - PubMed: Pohlenz 1998 ClinVar-RCV000008106 rs121909177 Germline - - - - - Johan den Dunnen
-/., ?/. 3 - c.1626C>T r.(=), r.(?) p.(=), p.(Cys542=) - benign, VUS g.17999239C>T g.17888430C>T SLC5A5(NM_000453.2):c.1626C>T (p.C542=) - SLC5A5_000011 183 heterozygous; Clinindb (India), 6 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs45602038 CLASSIFICATION record, Germline - 183/2795 individuals, 6/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+/. 1 - c.1628G>A r.(?) p.(Gly543Glu) - pathogenic (recessive) g.17999241G>A - G543E - SLC5A5_000031 - PubMed: Kosugi 1998 ClinVar-RCV000008108 rs121909179 Germline - - - - - Johan den Dunnen
-/. 1 - c.1632C>G r.(?) p.(Ala544=) - benign g.17999245C>G g.17888436C>G SLC5A5(NM_000453.2):c.1632C>G (p.A544=) - SLC5A5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1652-9G>A r.(=) p.(=) - benign g.18001686G>A g.17890877G>A SLC5A5(NM_000453.2):c.1652-9G>A - SLC5A5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.1664G>A r.(?) p.(Arg555His) - VUS g.18001707G>A g.17890898G>A SLC5A5(NM_000453.2):c.1664G>A (p.R555H) - SLC5A5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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