Unique variants in the SLC26A2 gene

Information The variants shown are described using the NM_000112.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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 1i c.-26+2T>C r.[0,=] p.[0,=] - pathogenic g.149340544T>C g.149960981T>C c.-26+2T>C: DTDSTFin; IVS1+2T>C - SLC26A2_000004 1 more item PubMed: Hästbacka et al. 1999, PubMed: Dwyer et al. 2010, PubMed: Mäkitie et al. 2014 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 3 c.835C>T r.(835C>T) p.(Arg279Trp) - pathogenic g.149359991C>T g.149980428C>T 862C>T: R279W; c862t:R279W - SLC26A2_000015 1 more item 1 more item - rs104893915 SUMMARY record yes - - - - Anne Polvi
+/+ 1 3 c.1020_1022del r.(?) p.(Val341del) - pathogenic g.149360176_149360178del g.149980613_149980615del ∆gtt (∆V340); 1045–1047delGTT: V340del - SLC26A2_000017 1 more item 1 more item - rs121908077 SUMMARY record yes - - - - Anne Polvi
+/+ 1 3 c.1535C>A r.1535c>a p.Thr512Lys - pathogenic g.149360691C>A g.149981128C>A c.1535C.A change (p.T512K) - SLC26A2_000024 1 Finnish DTD family (hom); Cells expressing p.Thr512Lys mutant showed no sulfate uptake PubMed: Bonafe et al. 2008 - rs121908078 SUMMARY record yes - - - - Anne Polvi
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