All transcript variants in gene SLC26A2

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

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1i c.-26+2T>C - r.[0,=] p.[0,=] g.149340544T>C - c.-26+2T>C: DTDSTFin; IVS1+2T>C - SLC26A2_000004 Finnish DTD Founder/Major mutation: ~80% of Finnish DTD patients (most hom). Also in ~18% of non-Finnish DTD patients. PubMed: Hästbacka et al. 1999, PubMed: Dwyer et al. 2010, PubMed: Mäkitie et al. 2014 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 2 c.47C>G - r.(47c>g) p.(Ser16*) g.149357262C>G - 74C>G: S16X - SLC26A2_000005 Rare Italian DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 2 c.55G>T - r.(55g>u) p.(Gly19*) g.149357270G>T - 82G>T: G19X - SLC26A2_000006 Rare British-Australian DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
?/. 2 c.229A>C - r.(?) p.(Asn77His) g.149357444A>C - - - SLC26A2_000002 - - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/+? 2 c.229A>C - r.(229a>c) p.(Asn77His) g.149357444A>C - 256A>C: N77H - SLC26A2_000002 Rare French DTD mutation (mild DTD variant) PubMed: Rossi et al. 2001 rs76784312 SUMMARY record yes - - 0 - Anne Polvi
+/+ 2 c.255delC - r.(255delc) p.(Asn87Ilefs*2) g.149357470delC - 282delC: FS/stop - SLC26A2_000007 Rare French DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 2 c.331G>T - r.(331g>u) p.(Asp111Tyr) g.149357546G>T - 359G>T: D111Y - SLC26A2_000008 Rare German DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 2 c.403C>A - r.(403c>a) p.(Gln135Lys) g.149357618C>A - 430C>A: Q135R - SLC26A2_000009 Rare French DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 2 c.496G>A - r.(496g>a) p.(Gly166Arg) g.149357711G>A - 523G>A: G166R - SLC26A2_000010 Rare Spanish DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 2 c.532C>T - r.(532c>u) p.(Arg178*) g.149357747C>T - c559t: R178X - SLC26A2_000011 Several DTD patients of various ethnicity; Functional studies show dicreased sulfate transport activity PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Barbosa et al. 2011 rs104893919 SUMMARY record yes - - 0 - Anne Polvi
+?/+? 3 c.700-1G>C - r.spl? p.? g.149359882G>C - 3' splice acceptor site of the first intron after start codon: AG>AC; ag( IVS- 1 )ac; IVS2-1G>C; c.727-1G>C - SLC26A2_000012 1 American DTD patient (het) and 2 Portugese DTD patients (com-het) PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Barbosa et al. 2011 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.705_711delGATGGGC - r.(705_711delgaugggc) p.(Met236Serfs*16) g.149359861_149359867delGATGGGC - 731-737delGATGGGC: FS/stop - SLC26A2_000013 Rare Hispanic-American DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.764G>A - r.(764g>a) p.(Gly255Glu) g.149359920G>A - g791a (G255E) - SLC26A2_000014 Several DTD patients of various ethnicity; Functional studies show dicreased sulfate transport activity PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a rs104893917 SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.835C>T - r.(835C>T) p.(Arg279Trp) g.149359991C>T - 862C>T: R279W; c862t:R279W - SLC26A2_000015 Many Caucasian and Finnish DTD families: The second most common DTD mutation in Finland and most frequent mutation outside Finland; Functional studies show dicreased sulfate transport activity PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Hästbacka et al. 1999, PubMed: Dwyer et al. 2010, PubMed: Barbosa et al. 2011 rs104893915 SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.906_907delCT - r.(906_907delcu) p.(Cys303*) g.149360062_149360063delCT - 933-934delCT: FS/stop - SLC26A2_000016 Rare French DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1018_1020delGTT - r.(1018_1020delguu) p.(Val341del) g.149360174_149360176delGTT - ∆gtt (∆V340); 1045–1047delGTT: V340del - SLC26A2_000017 Several DTD patients of various ethnicity, also Finnish and Japanese; Functional studies show decreased sulfate transport activity PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a, PubMed: Hästbacka et al. 1999, PubMed: Cai et al. 1998 rs121908077 SUMMARY record yes - - 0 - Anne Polvi
+?/+? 3 c.1157C>T - r.(1157c>u) p.(Ala386Val) g.149360313C>T - 1184C>T: A386V - SLC26A2_000018 Lebanese DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1242_1245delAAAC - r.(1242_1245delaaac) p.(Asn415Argfs*44) g.149360398_149360401delAAAC - 1269-1272delAAAC: FS/stop - SLC26A2_000019 German DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1273A>G - r.(1273a>g) p.(Asn425Asp) g.149360429A>G - A1300G: N425D; Asn425Asp - SLC26A2_000020 1 Portugese DTD patient (com-het); Functional studies show dicreased sulfate transport activity PubMed: Superti-Furga_et al. 1996c, PubMed: Barbosa et al. 2011 rs104893920 SUMMARY record yes - - 0 - Anne Polvi
+?/+? 3 c.1361A>C - r.(1361a>c) p.(Gln454Pro) g.149360517A>C - a1388c: Q454P - SLC26A2_000021 1 Lebanese DTD family PubMed: Megarbane et al. 1999 rs104893921 SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1394delT - r.(1394delu) p.(Leu465Cysfs*5) g.149360550delT - 1421delT: FS/stop - SLC26A2_000022 Rare Belgian DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/. - c.1448T>C ACMG 5 r.(?) p.(Leu483Pro) g.149360604T>C - - - SLC26A2_000035 - Trujillano et al., submitted - Germline - - - 0 - Daniel Trujillano
+?/+? 3 c.1451G>A - r.(1451g>a) p.(Gly484Asp) g.149360607G>A - 1478G>A: G484D - SLC26A2_000023 Rare Czech DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
?/. 3 c.1474C>T - r.(?) p.(Arg492Trp) g.149360630C>T - - - SLC26A2_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.1474C>T - r.(?) p.(Arg492Trp) g.149360630C>T - - - SLC26A2_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.1474C>T - r.(?) p.(Arg492Trp) g.149360630C>T - - - SLC26A2_000003 - - - Germline - - - 0 - Gerard C.P. Schaafsma
+?/+? 3 c.1474C>T - r.(1474c>u) p.(Arg492Trp) g.149360630C>T - 1501C>T: R492W - SLC26A2_000003 DTD mutation, seen in several DTD patients PubMed: Rossi et al. 2001 rs78676079 SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1535C>A - r.1535c>a p.Thr512Lys g.149360691C>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 - - 0 - Anne Polvi
+/+ 3 c.1650delG - r.(1650delg) p.(Ser551Valfs*34) g.149360806delG - 1677delG: FS/stop - SLC26A2_000025 Rare British-Italian DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
?/? 3 c.1721T>C - r.(1721u>c) p.(Ile574Thr) g.149360877T>C - 1748C>T: T574I possibly rare polymorphism - SLC26A2_000026 German, Dutch polymorphism, possible association with DTD; Possibly rare polymorphism PubMed: Rossi et al. 2001 rs30832 SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1724delA - r.(1724dela) p.(Lys575Serfs*10) g.149360880delA - ∆a1751 (FS) - SLC26A2_000027 Several DTD patients of various ethnicity PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 3 c.1957T>A - r.(1957u>a) p.(Cys653Ser) g.149361113T>A - 1984T>A: C653S - SLC26A2_000028 DTD mutation, observed in several DTD patients and also in one rMED DTD patient. PubMed: Rossi et al. 2001 rs104893924 SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1976delT - r.(1976delu) p.(Leu659*) g.149361132delT - 2003delT: FS/stop - SLC26A2_000029 Rare DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
+/+ 3 c.1983delA - r.(1983dela) p.(Ala662Glnfs*6) g.149361139delA - ∆a2009 (FS); ∆a2010 (FS) - SLC26A2_000030 Rare DTD mutation PubMed: Hästbacka et al. 1994, PubMed: Superti-Furga et al. 1996b, PubMed: Superti-Furga et al. 1996a - SUMMARY record yes - - 0 - Anne Polvi
+?/+? 3 c.1994A>C - r.(1994a>c) p.(His665Pro) g.149361150A>C - 2021A>C: H665P - SLC26A2_000031 Rare Canadian-British DTD mutation PubMed: Rossi et al. 2001 rs141798540 SUMMARY record yes - - 0 - Anne Polvi
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 3 c.2065A>T - r.(?) p.(Thr689Ser) g.149361221A>T - - - SLC26A2_000001 - - - Germline - - - 0 - Gerard C.P. Schaafsma
+/+ 3 c.2120_2121del - r.(2120_2121del) p.(Leu707Profs*4) g.149361276_149361277del - 2147-2148: FS/stop - SLC26A2_000032 Rare French DTD mutation PubMed: Rossi et al. 2001 - SUMMARY record yes - - 0 - Anne Polvi
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