Full data view for gene SLC5A2

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

38 entries on 1 page. Showing entries 1 - 38.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-4311307_*386828dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
?/. - c.197C>T r.(?) p.(Pro66Leu) Unknown - VUS g.31496064C>T g.31484743C>T - - SLC5A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233G>A r.(?) p.(Ser78Asn) Unknown - VUS g.31496174G>A g.31484853G>A - - SLC5A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.245T>G r.(?) p.(Val82Gly) Unknown - VUS g.31496186T>G g.31484865T>G - - SLC5A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.294C>A r.(?) p.(Phe98Leu) Unknown - pathogenic g.31496235C>A g.31484914C>A - - SLC5A2_000001 - - - - Unknown - - - 0 - DNA SEQ blood - GLYS-1 - - - F no China - - 0 - - 1 Lei Yu
-?/. - c.483C>T r.(?) p.(Ser161=) Unknown - likely benign g.31497505C>T g.31486184C>T - - SLC5A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.506del r.(?) p.(Ala169ValfsTer18) Unknown - pathogenic g.31497528del - SLC5A2(NM_003041.3):c.506delC (p.A169Vfs*18) - SLC5A2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571A>C r.(?) p.(Thr191Pro) Unknown - VUS g.31497593A>C g.31486272A>C - - SLC5A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654C>T r.(?) p.(Tyr218=) Unknown - VUS g.31498720C>T g.31487399C>T - - SLC5A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.736C>T r.(?) p.(Pro246Ser) Maternal (confirmed) - pathogenic g.31498931C>T g.31487610C>T - - SLC5A2_000002 - - - - Germline - - - 0 - DNA SEQ blood - GLYS-1 - - - M no China - - 0 - - 1 Lei Yu
+?/. - c.885+5G>A r.spl? p.? Unknown - likely pathogenic g.31499085G>A g.31487764G>A SLC5A2(NM_003041.3):c.885+5G>A - SLC5A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.885+5G>A r.spl? p.? Unknown - VUS g.31499085G>A - SLC5A2(NM_003041.3):c.885+5G>A - SLC5A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.894G>A r.(?) p.(Val298=) Unknown - likely benign g.31499367G>A - SLC5A2(NM_003041.3):c.894G>A (p.V298=) - SLC5A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031C>T r.(?) p.(Ala344Val) Unknown - VUS g.31499713C>T g.31488392C>T - - SLC5A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.1051T>C r.(?) p.(Cys351Arg) Paternal (confirmed) - pathogenic g.31499733T>C g.31488412T>C - - SLC5A2_000004 - - - - Germline - - - 0 - DNA SEQ blood - GLYS-1 - - - M no China - - 0 - - 1 Lei Yu
+?/. - c.1081T>G r.(?) p.(Cys361Gly) Unknown - likely pathogenic g.31499763T>G g.31488442T>G - - SLC5A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1102C>T r.(?) p.(Arg368Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1102C>T r.(?) p.(Arg368Trp) Unknown - likely 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1145T>C r.(?) p.(Met382Thr) Unknown - likely pathogenic g.31499958T>C g.31488637T>C - - SLC5A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1241G>A r.(?) p.(Arg414Gln) Unknown - VUS g.31500054G>A g.31488733G>A - - SLC5A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275G>A r.(?) p.(Val425=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275G>A r.(?) p.(Val425=) Unknown - likely benign g.31500088G>A - SLC5A2(NM_003041.4):c.1275G>A (p.V425=) - SLC5A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1280+1G>A r.spl? p.? Unknown - pathogenic g.31500094G>A g.31488773G>A SLC5A2(NM_003041.3):c.1280+1G>A - SLC5A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1280+1G>A r.spl? p.? Unknown - pathogenic g.31500094G>A g.31488773G>A SLC5A2(NM_003041.3):c.1280+1G>A - SLC5A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1297A>G r.(?) p.(Ile433Val) Unknown - VUS g.31500217A>G g.31488896A>G - - SLC5A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1337C>T r.(?) p.(Ala446Val) Unknown - VUS g.31500257C>T - SLC5A2(NM_003041.3):c.1337C>T (p.A446V) - C16orf58_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1359C>A r.(?) p.(Phe453Leu) Unknown - VUS g.31500279C>A g.31488958C>A - - SLC5A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1400T>C r.(?) p.(Val467Ala) Parent #1 - pathogenic g.31500320T>C g.31488999T>C - - SLC5A2_000005 - - - - Germline - - - 0 - DNA SEQ blood - GLYS-1 - - - M ? China - - 0 - - 1 Lei Yu
+?/. - c.1405G>A r.(?) p.(Ala469Thr) Unknown - likely pathogenic g.31500325G>A g.31489004G>A - - SLC5A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1420G>C r.(?) p.(Ala474Pro) Paternal (confirmed) - pathogenic g.31500340G>C g.31489019G>C - - SLC5A2_000003 - - - - Germline - - - 0 - DNA SEQ blood - GLYS-1 - - - M no China - - 0 - - 1 Lei Yu
+/. - c.1507G>A r.(?) p.(Glu503Lys) Unknown - pathogenic g.31500501G>A - SLC5A2(NM_003041.4):c.1507G>A (p.E503K) - SLC5A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1531T>C r.(?) p.(Cys511Arg) Unknown - VUS g.31500525T>C g.31489204T>C - - SLC5A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1665+2T>C r.spl? p.? Unknown - pathogenic g.31500661T>C g.31489340T>C - - SLC5A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 13 c.1691G>A r.(?) p.(Arg564Gln) Parent #1 - pathogenic g.31501450G>A g.31490129G>A - - SLC5A2_000006 - - - - Germline - - - 0 - DNA SEQ blood - GLYS-1 - - - M no China - - 0 - - 1 Lei Yu
-?/. - c.1758G>A r.(?) p.(Gln586=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1961A>G r.(?) p.(Asn654Ser) Unknown - VUS g.31501798A>G g.31490477A>G - - SLC5A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2012A>T r.(?) p.(Tyr671Phe) Unknown - likely benign g.31501849A>T - SLC5A2(NM_003041.3):c.2012A>T (p.Y671F) - C16orf58_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*33C>G r.(=) p.(=) Unknown - benign g.31501889C>G g.31490568C>G - - C16orf58_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   How to query