Unique variants in the SLC5A2 gene

Information The variants shown are described using the NM_003041.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.-4311307_*386828dup - - - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
?/. 1 - c.197C>T r.(?) p.(Pro66Leu) - VUS g.31496064C>T g.31484743C>T - - SLC5A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.233G>A r.(?) p.(Ser78Asn) - VUS g.31496174G>A g.31484853G>A - - SLC5A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.245T>G r.(?) p.(Val82Gly) - VUS g.31496186T>G g.31484865T>G - - SLC5A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 3 c.294C>A r.(?) p.(Phe98Leu) - pathogenic g.31496235C>A g.31484914C>A - - SLC5A2_000001 - - - - Unknown - - - - - Lei Yu
-?/. 1 - c.483C>T r.(?) p.(Ser161=) - likely benign g.31497505C>T g.31486184C>T - - SLC5A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.506del r.(?) p.(Ala169ValfsTer18) - pathogenic g.31497528del - SLC5A2(NM_003041.3):c.506delC (p.A169Vfs*18) - SLC5A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.571A>C r.(?) p.(Thr191Pro) - VUS g.31497593A>C g.31486272A>C - - SLC5A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.654C>T r.(?) p.(Tyr218=) - VUS g.31498720C>T g.31487399C>T - - SLC5A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 7 c.736C>T r.(?) p.(Pro246Ser) - pathogenic g.31498931C>T g.31487610C>T - - SLC5A2_000002 - - - - Germline - - - - - Lei Yu
+?/., ?/. 2 - c.885+5G>A r.spl? p.? - likely pathogenic, VUS g.31499085G>A g.31487764G>A SLC5A2(NM_003041.3):c.885+5G>A - SLC5A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.894G>A r.(?) p.(Val298=) - likely benign g.31499367G>A - SLC5A2(NM_003041.3):c.894G>A (p.V298=) - SLC5A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1031C>T r.(?) p.(Ala344Val) - VUS g.31499713C>T g.31488392C>T - - SLC5A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 9 c.1051T>C r.(?) p.(Cys351Arg) - pathogenic g.31499733T>C g.31488412T>C - - SLC5A2_000004 - - - - Germline - - - - - Lei Yu
+?/. 1 - c.1081T>G r.(?) p.(Cys361Gly) - likely pathogenic g.31499763T>G g.31488442T>G - - SLC5A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 - c.1102C>T r.(?) p.(Arg368Trp) - likely pathogenic, pathogenic g.31499784C>T g.31488463C>T SLC5A2(NM_003041.4):c.1102C>T (p.R368W) - SLC5A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+?/. 1 - c.1145T>C r.(?) p.(Met382Thr) - likely pathogenic g.31499958T>C g.31488637T>C - - SLC5A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1241G>A r.(?) p.(Arg414Gln) - VUS g.31500054G>A g.31488733G>A - - SLC5A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1275G>A r.(?) p.(Val425=) - likely benign g.31500088G>A g.31488767G>A SLC5A2(NM_003041.4):c.1275G>A (p.V425=) - SLC5A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 2 - c.1280+1G>A r.spl? p.? - pathogenic g.31500094G>A g.31488773G>A SLC5A2(NM_003041.3):c.1280+1G>A - SLC5A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1297A>G r.(?) p.(Ile433Val) - VUS g.31500217A>G g.31488896A>G - - SLC5A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1337C>T r.(?) p.(Ala446Val) - VUS g.31500257C>T - SLC5A2(NM_003041.3):c.1337C>T (p.A446V) - C16orf58_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1359C>A r.(?) p.(Phe453Leu) - VUS g.31500279C>A g.31488958C>A - - SLC5A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 11 c.1400T>C r.(?) p.(Val467Ala) - pathogenic g.31500320T>C g.31488999T>C - - SLC5A2_000005 - - - - Germline - - - - - Lei Yu
+?/. 1 - c.1405G>A r.(?) p.(Ala469Thr) - likely pathogenic g.31500325G>A g.31489004G>A - - SLC5A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 11 c.1420G>C r.(?) p.(Ala474Pro) - pathogenic g.31500340G>C g.31489019G>C - - SLC5A2_000003 - - - - Germline - - - - - Lei Yu
+/. 1 - c.1507G>A r.(?) p.(Glu503Lys) - pathogenic g.31500501G>A - SLC5A2(NM_003041.4):c.1507G>A (p.E503K) - SLC5A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1531T>C r.(?) p.(Cys511Arg) - VUS g.31500525T>C g.31489204T>C - - SLC5A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1665+2T>C r.spl? p.? - pathogenic g.31500661T>C g.31489340T>C - - SLC5A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 13 c.1691G>A r.(?) p.(Arg564Gln) - pathogenic g.31501450G>A g.31490129G>A - - SLC5A2_000006 - - - - Germline - - - - - Lei Yu
-?/. 1 - c.1758G>A r.(?) p.(Gln586=) - likely benign g.31501517G>A g.31490196G>A SLC5A2(NM_003041.4):c.1758G>A (p.Q586=) - C16orf58_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1961A>G r.(?) p.(Asn654Ser) - VUS g.31501798A>G g.31490477A>G - - SLC5A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2012A>T r.(?) p.(Tyr671Phe) - likely benign g.31501849A>T - SLC5A2(NM_003041.3):c.2012A>T (p.Y671F) - C16orf58_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*33C>G r.(=) p.(=) - benign g.31501889C>G g.31490568C>G - - C16orf58_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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