Full data view for gene SLC26A4


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_000441.1 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

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ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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Owner     
+/. 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G - - SLC26A4_000068 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
+?/. 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - likely pathogenic g.107334918T>G g.107694473T>G - - SLC26A4_000068 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. - c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G SLC26A4(NM_000441.2):c.1334T>G (p.L445W) - SLC26A4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G SLC26A4(NM_000441.2):c.1334T>G (p.L445W) - SLC26A4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Mutation PubMed: López-Bigas N 2002; USMA-missense variant in MSV3d - rs111033307 Germline - - - - - DNA SEQ - - PDS;TDH2B - PubMed: López-Bigas N 2002 Proband - - Italy - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Paternal (inferred) - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 homozygous; Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033307 Germline - - - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033307 Germline - - - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033307 Germline - - - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Relative M - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogeni Functional studies showed endoplasmic reticulum retention with no surface expression of mutant pedrin confirming its pathogenicity (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033307 Germline - - - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Maternal (inferred) - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 homozygous; Pathogenic PubMed: B.Choi 2009; USMA-missense variant in MSV3d - rs111033307 Germline - - - - - DNA SEQ - - DFNB - PubMed: B.Choi 2009 Proband F - United States - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Pathogenic PubMed: V.de Moraes 2013; USMA-missense variant in MSV3d - rs111033307 Germline - 0/60 controls - - - DNA SEQ - - DFNB - PubMed: V.de Moraes 2013 Proband F - Brazil - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Pathogenic PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033307 Germline - 0/200 controls - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033307 Germline - 0/200 controls - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033307 Germline - 0/200 controls - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033307 Germline - - - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
+/+ 11 c.1334T>G r.(?) p.(Leu445Trp) Unknown - pathogenic g.107334918T>G g.107694473T>G Pathogenic, functional studies of mutant pendrin showed an endoplasmic reticulum retention with no surface expression (B.Choi et al.,2009) - SLC26A4_000068 heterozygous; Mutation PubMed: M.Ladsous 2014; USMA-missense variant in MSV3d - rs111033307 Germline - 0/200 controls - - - DNA SEQ - - PDS;TDH2B - PubMed: M.Ladsous 2014 Relative M - France - - - - - 1 Anne-Françoise Roux
+/. 11 c.1334T>G r.(?) p.(Leu445Trp) Parent #2 - pathogenic g.107334918T>G g.107694473T>G - - SLC26A4_000068 no variant 2nd chromosome - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-898 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 11 c.1334T>G r.(?) p.(Leu445Trp) Both (homozygous) - pathogenic (recessive) g.107334918T>G g.107694473T>G - - SLC26A4_000068 - PubMed: Ammar-Khodja 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES HL Fam3 PubMed: Ammar-Khodja 2015 5-generation family, affected sister/brother, unaffected heterozygous parents/relatives F;M yes Algeria - - - - - 2 Johan den Dunnen
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