Full data view for gene TRIM37

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

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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dbSNP ID     

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VIP     

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Disease     

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Panel size     

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+/+ 2 c.81delG - r.(81delg) p.(Cys28Valfs*17) Unknown g.57181696delC - - - TRIM37_000015 1 French MUL patient (hom) Hämäläinen, Sonnet, Lehesjoki, unpublished data rs312262706 SUMMARY record yes 0/95 CEPH - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.227T>C - r.(227u>c) p.(Leu76Pro) Unknown g.57165706A>G - - - TRIM37_000024 1 Finnish MUL patient (com-het). PubMed: Kallijärvi et al. 2005 - Germline yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.326G>C - r.(326g>c) p.(Cys109Ser) Unknown g.57161406C>G - - - TRIM37_000001 1 Australian MUL patient (com-het) PubMed: Hämäläinen et al. 2006 rs121908391 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 6i c.493-2A>G - r.493_497delgaaag p.Arg166Cysfs*10 Unknown g.57157240T>C - - - TRIM37_000002 Finnish major mutation (FINmajor): 50 Finnish MUL patients (48 hom and 2 com-het) PubMed: Avela et al. 2000 rs186251998 SUMMARY record yes 0/95 FIN CON - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.685-?_809+?del - r.(685_809del) p.(Leu229*) Unknown g.(?_57148184)_(57148308_?)del - - - TRIM37_000017 1 British MUL patient (hom). Exon 9 deletion. Kettunen, Hurst, Lehesjoki unpublished data - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.745C>T - r.(745c>u) p.(Gln249*) Unknown g.57148248G>A - - - TRIM37_000003 1 Canadian MUL patient (com-het) PubMed: Hämäläinen et al. 2004 - SUMMARY record yes 0/85 CEPH - - - - - - - - - - - - - - - - - - - - -
+/+ 9i c.810-1G>A - r.810_817delugaauuag p.Glu271Alafs*64 Both (homozygous) g.57141767C>T - AB020705: c.855-1G>A - TRIM37_000004 3 Turkish sibs (hom) with MUL PubMed: Jagiello et al. 2003 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.838_842delACTTT - r.838_842delacuuu p.Thr280Cysfs*56 Both (homozygous) g.57141734_57141738delAAAGT - - - TRIM37_000005 1 Czech MUL patient (hom) PubMed: Avela et al. 2000 - SUMMARY record yes 0/200 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.860G>A - r.810_860del p.Glu271_Ser287del Unknown g.57141716C>T - - - TRIM37_000006 1 Australian MUL patient (com-het) PubMed: Hämäläinen et al. 2006 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.965G>T - r.965g>u p.Gly322Val Unknown g.57138447C>A - - - TRIM37_000007 1 Canadian MUL patient (com-het) PubMed: Hämäläinen et al. 2004 - SUMMARY record yes 0/85 CEPH - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1037_1040dup - r.(1037_1040dupagau) p.(Met347Ilefs*8) Unknown g.57134395_57134398dup - - - TRIM37_000008 1 Canadian MUL patient (com-het) PubMed: Hämäläinen et al. 2004 - SUMMARY record yes 0/85 CEPH - - - - - - - - - - - - - - - - - - - - -
+?/+? 13 c.1166A>G - r.(1166a>g) p.(Tyr389Cys) Unknown g.57134269T>C - - - TRIM37_000018 1 Finnish MUL patient (com-het) Hämäläinen, Lipsanen-Nyman, Lehesjoki, unpublished data rs312262705 SUMMARY record yes 0/95 CEPH - - - - - - - - - - - - - - - - - - - - -
+/+ 14 c.1233delA - r.(1233dela) p.(Lys411Asnfs*23) Unknown g.57128656delT - - - TRIM37_000019 1 German MUL patient (hom) PubMed: Kumpf et al. 2013 rs312262704 SUMMARY record yes 0/95 CEPH vallijaa 0 - - - - - - - - - - - - - - - - - - -
+/+ 14i_16i c.1314+507_1668-207del - r.(1315_1667del) p.(Arg439Valfs*5) Both (homozygous) g.57119466_57128068del - - - TRIM37_000009 1 Sisilian MUL patient (hom) PubMed: Hämäläinen et al. 2004 - SUMMARY record yes 0/85 CEPH - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1346dup - r.1346dupa p.Ser450Valfs*9 Both (homozygous) g.57126723dup - c.1346_1347insA - TRIM37_000010 1 American MUL patient (hom) PubMed: Avela et al. 2000 - SUMMARY record yes 0/190 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1411C>T - r.(1411c>u) p.(Arg471*) Unknown g.57126658G>A - - - TRIM37_000011 1 Canadian (het) and 1 Tunisian-German (hom) MUL patient PubMed: Hämäläinen et al. 2004 - SUMMARY record yes 0/85 CEPH - - - - - - - - - - - - - - - - - - - - -
+/+ 18 c.1894_1895delGA - r.(1894_1895delga) p.(Glu632Lysfs*25) Both (homozygous) g.57109310_57109311delTC - - - TRIM37_000012 1 Turkish MUL patient (hom) PubMed: Doğanc et al. 2007 - SUMMARY record yes 0/100 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 18 c.1910_1911dupTA - r.(1910_1911dupua) p.(Gln638Tyrfs*36) Unknown g.57109294_57109295dup - - - TRIM37_000020 1 Swiss MUL patient (com-het) Hämäläinen, Bartholdi, Lehesjoki, unpublished data rs312262703 SUMMARY record yes 1/95 CEPH (het) - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.1999C>T - r.(1999c>u) p.(Arg667*) Unknown g.57106034G>A - - - TRIM37_000021 1 Polish MUL patient (com-het) Kettunen, Pachucki, Lehesjoki unpublished data rs312262702 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.2056C>T - r.(2056c>u) p.(Arg686*) Both (homozygous) g.57105977G>A - - - TRIM37_000013 1 Saudi-Arabian MUL patient (hom) PubMed: Hämäläinen et al. 2004 - SUMMARY record yes 0/85 CEPH - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.2125delA - r.(2125dela) p.(Met709Cysfs*60) Unknown g.57105908delT - - - TRIM37_000022 1 Polish MUL patient (com-het) Kettunen, Pachucki, Lehesjoki unpublished data rs312262701 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 19 c.2212delG - r.2212delg p.Glu738Asnfs*31 Unknown g.57105821delC - - - TRIM37_000014 Finnish minor mutation (FINminor), 2 Finnish MUL patients (het) PubMed: Avela et al. 2000 - SUMMARY record yes 0/316 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 21 c.2438_2439insAT - r.(2438_2439insau) p.(Ile814*) Both (homozygous) g.57093109_57093110insTA - - - TRIM37_000023 1 Turkish MUL family (hom) Kettunen, Okur, Lehesjoki unpublished data rs312262700 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
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