Full data view for gene SLC5A6

Information The variants shown are described using the NM_021095.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-9429G>A r.(?) p.(=) Unknown - likely benign g.27444109C>T g.27221241C>T CAD(NM_004341.5):c.246C>T (p.H82=) - ATRAID_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9429G>A r.(?) p.(=) Unknown - likely benign g.27444109C>T - CAD(NM_004341.5):c.246C>T (p.H82=) - ATRAID_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-6080A>C r.(?) p.(=) Unknown - likely pathogenic g.27440760T>G - CAD(NM_004341.5):c.98T>G (p.M33R) - ATRAID_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6062G>A r.(?) p.(=) Unknown - likely benign g.27440742C>T g.27217874C>T CAD(NM_004341.5):c.83-3C>T - ATRAID_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-208+8T>G r.(=) p.(=) Unknown - likely benign g.27434880A>C - SLC5A6(NM_021095.4):c.-208+8T>G - ATRAID_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45G>A r.(?) p.(=) Unknown - VUS g.27430474C>T - SLC5A6(NM_021095.4):c.45G>A (p.(Ser15=)) - ATRAID_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.134A>G r.(?) p.(Tyr45Cys) Unknown - VUS g.27430385T>C - SLC5A6(NM_021095.4):c.134A>G (p.(Tyr45Cys)) - ATRAID_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>T r.(?) p.(Ala84=) Unknown - likely benign g.27430267G>A - SLC5A6(NM_021095.3):c.252C>T (p.A84=) - ATRAID_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.280C>T r.(?) p.(Arg94*) Maternal (confirmed) other pathogenic (recessive) g.27430239G>A g.27207371G>A - - SLC5A6_000007 - PubMed: Holling 2022 - - Germline yes - - - - DNA SEQ-NG-I - WES neuropathy 2-1 PubMed: Holling 2022 - F no United States - - - - - 1 Tess Holling
+/. - c.280C>T r.(?) p.(Arg94*) Parent #1 - pathogenic (recessive) g.27430239G>A - - - SLC5A6_000007 - PubMed: Subramanian 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - whole genome scanning ? patient PubMed: Subramanian 2017 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.280C>T r.(?) p.(Arg94*) Unknown - pathogenic g.27430239G>A - SLC5A6(NM_021095.4):c.280C>T (p.(Arg94*)) - SLC5A6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368G>T r.(?) p.(Arg123Leu) Parent #2 - pathogenic (recessive) g.27430151C>A g.27207283C>A - - SLC5A6_000009 - PubMed: Subramanian 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - whole genome scanning ? patient PubMed: Subramanian 2017 2-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.411C>A r.(?) p.(Phe137Leu) Unknown - VUS g.27429793G>T - SLC5A6(NM_021095.4):c.411C>A (p.(Phe137Leu)) - SLC5A6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421G>A r.(?) p.(Val141Met) Unknown - VUS g.27429783C>T - SLC5A6(NM_021095.3):c.421G>A (p.V141M) - SLC5A6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.422_423del r.(?) p.(Val141Alafs*34) Maternal (confirmed) - pathogenic (recessive) g.27429783_27429784del g.27206915_27206916del 422_423delTG - SLC5A6_000011 - PubMed: Byrne 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1/2 PubMed: Byrne 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Australia - - - - - 2 Johan den Dunnen
+?/. - c.485A>G r.(?) p.(Tyr162Cys) Paternal (confirmed) other likely pathogenic (recessive) g.27429377T>C g.27206509T>C - - SLC5A6_000006 - PubMed: Holling 2022 - - Germline yes - - - - DNA SEQ-NG-I - WES neuropathy 2-1 PubMed: Holling 2022 - F no United States - - - - - 1 Tess Holling
?/. - c.853C>T r.(?) p.(Arg285Cys) Unknown - VUS g.27427681G>A - SLC5A6(NM_021095.4):c.853C>T (p.(Arg285Cys), p.R285C) - SLC5A6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.853C>T r.(?) p.(Arg285Cys) Unknown - VUS g.27427681G>A - SLC5A6(NM_021095.4):c.853C>T (p.(Arg285Cys), p.R285C) - SLC5A6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1005+1G>A r.spl? p.? Unknown - pathogenic g.27427328C>T - SLC5A6(NM_021095.4):c.1005+1G>A - SLC5A6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1199G>C r.(?) p.(Arg400Thr) Paternal (confirmed) - likely pathogenic (recessive) g.27426109C>G g.27203241C>G - - SLC5A6_000010 - PubMed: Byrne 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamPatII1/2 PubMed: Byrne 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M - Australia - - - - - 2 Johan den Dunnen
+?/. - c.1285A>G r.(?) p.(Ser429Gly) Both (homozygous) other likely pathogenic (recessive) g.27424933T>C g.27202065T>C - - SLC5A6_000005 - PubMed: Holling 2022 - - Germline yes - - - - DNA SEQ-NG-I - WES neuropathy 1-1 PubMed: Holling 2022 - F no India - - - - - 3 Tess Holling
+?/. - c.1285A>G r.(?) p.(Ser429Gly) Both (homozygous) other likely pathogenic (recessive) g.27424933T>C g.27202065T>C - - SLC5A6_000005 - PubMed: Holling 2022 - - Germline yes - - - - DNA SEQ-NG-I - WES neuropathy 1-2 PubMed: Holling 2022 - F no India - - - - - 1 Tess Holling
+?/. - c.1285A>G r.(?) p.(Ser429Gly) Both (homozygous) other likely pathogenic (recessive) g.27424933T>C g.27202065T>C - - SLC5A6_000005 - PubMed: Holling 2022 - - Germline yes - - - - DNA SEQ-NG-I - WES neuropathy 1-3 PubMed: Holling 2022 - M no India - - - - - 1 Tess Holling
+?/. - c.1285A>G r.(1285a>g) p.(Ser429Gly) Both (homozygous) other likely pathogenic (recessive) g.27424933T>C g.27202065T>C - - SLC5A6_000005 - PubMed: Holling 2022 - - Germline yes - - - - DNA SEQ-NG-I - WES neuropathy - PubMed: Holling 2022 - F no India - - - - - 1 Tess Holling
?/. - c.1362+6T>C r.(=) p.(=) Unknown - VUS g.27424850A>G - SLC5A6(NM_021095.3):c.1362+6T>C - SLC5A6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1562G>A r.(?) p.(Arg521Gln) Unknown - likely benign g.27424304C>T - SLC5A6(NM_021095.3):c.1562G>A (p.R521Q) - SLC5A6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1648+7G>T r.(=) p.(=) Unknown - likely benign g.27424211C>A - SLC5A6(NM_021095.4):c.1648+7G>T - SLC5A6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1658G>A r.(?) p.(Arg553Gln) Unknown - likely benign g.27423972C>T - SLC5A6(NM_021095.3):c.1658G>A (p.R553Q) - SLC5A6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1865_1866del r.(?) p.(Gln622ArgfsTer51) Unknown - VUS g.27423346_27423347del g.27200478_27200479del SLC5A6(NM_021095.3):c.1865_1866delAG (p.Q622Rfs*51), SLC5A6(NM_021095.4):c.1865_1866del (p.(Gln622Argfs*51)), SLC5A6(NM_021095.4):c.1865_1866delAG ... - SLC5A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1865_1866del r.(?) p.(Gln622ArgfsTer51) Unknown - likely pathogenic g.27423346_27423347del - SLC5A6(NM_021095.3):c.1865_1866delAG (p.Q622Rfs*51), SLC5A6(NM_021095.4):c.1865_1866del (p.(Gln622Argfs*51)), SLC5A6(NM_021095.4):c.1865_1866delAG ... - SLC5A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1865_1866del r.(?) p.(Gln622ArgfsTer51) Unknown - likely pathogenic g.27423346_27423347del - SLC5A6(NM_021095.3):c.1865_1866delAG (p.Q622Rfs*51), SLC5A6(NM_021095.4):c.1865_1866del (p.(Gln622Argfs*51)), SLC5A6(NM_021095.4):c.1865_1866delAG ... - SLC5A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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