Unique variants in the TRIM37 gene

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

59 entries on 1 page. Showing entries 1 - 59.
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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 - c.(?_-45419)_(2695+3579_2696-1)del r.0? p.0? - pathogenic (recessive) g.(57079076_57086110)_(57229241_57100000)del - 57086110_57229241del - TRIM37_000061 143 Kb deletion PubMed: Mozzillo 2016 - - Germline - - - - - Johan den Dunnen
+/+ 1 2 c.81del r.(?) p.(Cys28Valfs*17) - pathogenic g.57181696del g.59104335del - - TRIM37_000015 1 French MUL patient (hom) Hämäläinen, Sonnet, Lehesjoki, unpublished data - rs312262706 SUMMARY record yes 0/95 CEPH - - - Anne Polvi
+?/+? 3 4 c.181C>T r.(?) p.(Arg61*) - pathogenic (recessive) g.57165752G>A g.59088391G>A - - TRIM37_000058 - PubMed: Jobic 2017 - - Germline yes - - - - Kaisa Kettunen
+/+ 1 4 c.227T>C r.(227u>c) p.(Leu76Pro) - pathogenic (recessive) g.57165706A>G g.59088345A>G - - TRIM37_000024 - PubMed: Kallijärvi 2005 - - Germline yes - - - - Kaisa Kettunen
+/+ 1 5 c.326G>C r.(326g>c) p.(Cys109Ser) - pathogenic g.57161406C>G g.59084045C>G - - TRIM37_000001 1 Australian MUL patient (com-het) PubMed: Hämäläinen et al. 2006 - rs121908391 SUMMARY record yes - - - - Anne Polvi
-/., -?/. 2 - c.398C>T r.(?) p.(Ala133Val) - benign, likely benign g.57158552G>A g.59081191G>A TRIM37(NM_001005207.2):c.398C>T (p.(Ala133Val)), TRIM37(NM_001005207.4):c.398C>T (p.A133V) - TRIM37_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
+/+ 1 6i c.493-2A>G r.493_497delgaaag p.Arg166Cysfs*10 - pathogenic g.57157240T>C g.59079879T>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 - - - Anne Polvi
?/. 1 - c.572C>G r.(?) p.(Ala191Gly) - VUS g.57157159G>C g.59079798G>C TRIM37(NM_015294.6):c.572C>G (p.A191G) - TRIM37_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 2 8i_9i c.685-233_810-2895del r.? p.(Leu229*) - pathogenic (recessive) g.57144661_57148541del g.59067300_59071180del - - TRIM37_000060 - PubMed: Jobic 2017 - - Germline yes - - - - Kaisa Kettunen
+/+ 1 9 c.685-?_809+?del r.(685_809del) p.(Leu229*) - pathogenic g.(?_57148184)_(57148308_?)del g.59070823_59070947del - - TRIM37_000017 1 British MUL patient (hom). Exon 9 deletion. Kettunen, Hurst, Lehesjoki unpublished data - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.737T>C r.(?) p.(Met246Thr) - likely benign g.57148256A>G g.59070895A>G TRIM37(NM_001005207.2):c.737T>C (p.(Met246Thr)) - TRIM37_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 9 c.745C>T r.(745c>u) p.(Gln249*) - pathogenic g.57148248G>A g.59070887G>A - - TRIM37_000003 1 Canadian MUL patient (com-het) PubMed: Hämäläinen et al. 2004 - - SUMMARY record yes 0/85 CEPH - - - Anne Polvi
-/., -?/. 3 - c.810-3del r.spl? p.? - benign, likely benign g.57141779del g.59064418del 1 more item - TRIM37_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_VUmc
+/+ 1 9i c.810-1G>A r.810_817delugaauuag p.Glu271Alafs*64 - pathogenic g.57141767C>T g.59064406C>T AB020705: c.855-1G>A - TRIM37_000004 3 Turkish sibs (hom) with MUL PubMed: Jagiello et al. 2003 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.817G>T r.(?) p.(Val273Leu) - likely benign g.57141759C>A g.59064398C>A TRIM37(NM_001005207.4):c.817G>T (p.V273L) - TRIM37_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.821C>G r.(?) p.(Pro274Arg) - VUS g.57141755G>C g.59064394G>C TRIM37(NM_015294.6):c.821C>G (p.P274R) - TRIM37_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 10 c.838_842del r.838_842delacuuu p.Thr280Cysfs*56 - pathogenic g.57141735_57141739del g.59064374_59064378del - - TRIM37_000005 1 Czech MUL patient (hom) PubMed: Avela et al. 2000 - - SUMMARY record yes 0/200 CON - - - Anne Polvi
+/+ 1 10 c.860G>A r.810_860del p.Glu271_Ser287del - pathogenic g.57141716C>T g.59064355C>T - - TRIM37_000006 1 Australian MUL patient (com-het) PubMed: Hämäläinen et al. 2006 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.861-6C>T r.(=) p.(=) - benign g.57140015G>A g.59062654G>A TRIM37(NM_001005207.4):c.861-6C>T - TRIM37_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.861C>G r.(?) p.(Ser287Arg) - likely benign g.57140009G>C g.59062648G>C TRIM37(NM_001005207.2):c.861C>G (p.(Ser287Arg)) - TRIM37_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.912A>G r.(?) p.(Ser304=) - likely benign g.57139958T>C g.59062597T>C TRIM37(NM_001005207.4):c.912A>G (p.S304=) - TRIM37_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 12 c.965G>T r.965g>u p.Gly322Val - pathogenic g.57138447C>A g.59061086C>A - - TRIM37_000007 1 Canadian MUL patient (com-het) PubMed: Hämäläinen et al. 2004 - - SUMMARY record yes 0/85 CEPH - - - Anne Polvi
+/+ 1 13 c.1037_1040dup r.(1037_1040dupagau) p.(Met347Ilefs*8) - pathogenic g.57134395_57134398dup g.59057034_59057037dup - - TRIM37_000008 1 Canadian MUL patient (com-het) PubMed: Hämäläinen et al. 2004 - - SUMMARY record yes 0/85 CEPH - - - Anne Polvi
+?/+? 1 13 c.1166A>G r.(1166a>g) p.(Tyr389Cys) - likely pathogenic g.57134269T>C g.59056908T>C - - TRIM37_000018 1 Finnish MUL patient (com-het) Hämäläinen, Lipsanen-Nyman, Lehesjoki, unpublished data - rs312262705 SUMMARY record yes 0/95 CEPH - - - Anne Polvi
+/+ 1 14 c.1233del r.(?) p.(Lys411Asnfs*23) - pathogenic g.57128660del g.59051299del - - TRIM37_000019 1 German MUL patient (hom) PubMed: Kumpf et al. 2013 - rs312262704 SUMMARY record yes 0/95 CEPH vallijaa - - Anne Polvi
-/. 1 - c.1264T>C r.(?) p.(Leu422=) - benign g.57128625A>G g.59051264A>G TRIM37(NM_001005207.4):c.1264T>C (p.L422=) - TRIM37_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 14i_16i c.1314+507_1668-207del r.(1315_1667del) p.(Arg439Valfs*5) - pathogenic g.57119503_57128105del g.59042142_59050744del - - TRIM37_000009 1 Sisilian MUL patient (hom) PubMed: Hämäläinen et al. 2004 - - SUMMARY record yes 0/85 CEPH - - - Anne Polvi
+?/+? 1 14i_16i c.1314+782_1668-221del r.? p.(Arg439Valfs*5) - pathogenic (recessive) g.57119480_57127793del g.59042119_59050432del g.57119478_57127818del - TRIM37_000059 - PubMed: Jobic 2017 - - Germline yes - - - - Kaisa Kettunen
+/+ 1 15 c.1346dup r.1346dupa p.Ser450Valfs*9 - pathogenic g.57126724dup g.59049363dup c.1346_1347insA - TRIM37_000010 1 American MUL patient (hom) PubMed: Avela et al. 2000 - - SUMMARY record yes 0/190 CON - - - Anne Polvi
-?/. 2 - c.1357T>A r.(?) p.(Leu453Met) - likely benign g.57126712A>T g.59049351A>T TRIM37(NM_001005207.2):c.1357T>A (p.(Leu453Met)), TRIM37(NM_001005207.4):c.1357T>A (p.L453M) - TRIM37_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.1386C>A r.(?) p.(Pro462=) - likely benign g.57126683G>T g.59049322G>T TRIM37(NM_015294.6):c.1386C>A (p.P462=) - TRIM37_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 15 c.1411C>T r.(1411c>u) p.(Arg471*) - pathogenic g.57126658G>A g.59049297G>A - - TRIM37_000011 1 Canadian (het) and 1 Tunisian-German (hom) MUL patient PubMed: Hämäläinen et al. 2004 - - SUMMARY record yes 0/85 CEPH - - - Anne Polvi
?/. 1 - c.1447G>A r.(?) p.(Glu483Lys) - VUS g.57126622C>T g.59049261C>T TRIM37(NM_015294.6):c.1447G>A (p.E483K) - TRIM37_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1532A>T r.(?) p.(His511Leu) - VUS g.57125179T>A g.59047818T>A TRIM37(NM_001005207.2):c.1532A>T (p.(His511Leu)) - TRIM37_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1533C>G r.(?) p.(His511Gln) - VUS g.57125178G>C g.59047817G>C TRIM37(NM_001005207.2):c.1533C>G (p.(His511Gln)) - TRIM37_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1536_1537insAT r.(?) p.(Leu513IlefsTer17) - VUS g.57125174_57125175insAT g.59047813_59047814insAT TRIM37(NM_001005207.2):c.1536_1537insAT (p.(Leu513IlefsTer17)) - TRIM37_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1538_1540del r.(?) p.(Leu513_Ser514delinsPro) - VUS g.57125171_57125173del g.59047810_59047812del TRIM37(NM_001005207.2):c.1538_1540del (p.(Leu513_Ser514delinsPro)) - TRIM37_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1570T>G r.(?) p.(Tyr524Asp) - likely benign g.57125141A>C - TRIM37(NM_001005207.2):c.1570T>G (p.(Tyr524Asp)) - TRIM37_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1630A>G r.(?) p.(Ser544Gly) - VUS g.57125081T>C - TRIM37(NM_001005207.2):c.1630A>G (p.(Ser544Gly)) - TRIM37_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1667+18_1667+19insAGTTTC r.(=) p.(=) - likely benign g.57125026_57125027insAAACTG g.59047665_59047666insAAACTG TRIM37(NM_001005207.4):c.1667+18_1667+19insAGTTTC - TRIM37_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1717G>A r.(?) p.(Glu573Lys) - VUS g.57119210C>T - TRIM37(NM_001005207.2):c.1717G>A (p.(Glu573Lys)) - TRIM37_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1754-3C>T r.spl? p.? - likely benign g.57109454G>A g.59032093G>A TRIM37(NM_001005207.2):c.1754-3C>T (p.?) - TRIM37_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 18 c.1894_1895del r.(?) p.(Glu632Lysfs*25) - pathogenic g.57109311_57109312del g.59031950_59031951del - - TRIM37_000012 1 Turkish MUL patient (hom) PubMed: Doğanc et al. 2007 - - SUMMARY record yes 0/100 CON - - - Anne Polvi
+/+ 1 18 c.1910_1911dup r.(?) p.(Gln638Tyrfs*36) - pathogenic g.57109294_57109295dup g.59031933_59031934dup - - TRIM37_000020 1 Swiss MUL patient (com-het) Hämäläinen, Bartholdi, Lehesjoki, unpublished data - rs312262703 SUMMARY record yes 1/95 CEPH (het) - - - Anne Polvi
?/. 2 - c.1919G>A r.(?) p.(Arg640His) - VUS g.57109286C>T g.59031925C>T TRIM37(NM_001005207.2):c.1919G>A (p.(Arg640His)), TRIM37(NM_015294.6):c.1919G>A (p.R640H) - TRIM37_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/+? 1 18i c.1949-12A>G r.1948_1949ins1949-11_1949-1 p.Ala650Valfs*27 - likely pathogenic (recessive) g.57106096T>C g.59028735T>C - - TRIM37_000057 - PubMed: Mozzillo 2016 - - Germline yes - - - - Kaisa Kettunen
+/+ 1 19 c.1999C>T r.(1999c>u) p.(Arg667*) - pathogenic g.57106034G>A g.59028673G>A - - TRIM37_000021 1 Polish MUL patient (com-het) Kettunen, Pachucki, Lehesjoki unpublished data - rs312262702 SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.2047G>A r.(?) p.(Ala683Thr) - likely benign g.57105986C>T g.59028625C>T TRIM37(NM_001005207.2):c.2047G>A (p.(Ala683Thr)) - TRIM37_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 19 c.2056C>T r.(2056c>u) p.(Arg686*) - pathogenic g.57105977G>A g.59028616G>A - - TRIM37_000013 1 Saudi-Arabian MUL patient (hom) PubMed: Hämäläinen et al. 2004 - - SUMMARY record yes 0/85 CEPH - - - Anne Polvi
+/+ 1 19 c.2125del r.(?) p.(Met709Cysfs*60) - pathogenic g.57105908del g.59028547del - - TRIM37_000022 1 Polish MUL patient (com-het) Kettunen, Pachucki, Lehesjoki unpublished data - rs312262701 SUMMARY record yes - - - - Anne Polvi
+/+ 1 19 c.2212del r.2212delg p.Glu738Asnfs*31 - pathogenic g.57105822del g.59028461del - - TRIM37_000014 Finnish minor mutation (FINminor), 2 Finnish MUL patients (het) PubMed: Avela et al. 2000 - - SUMMARY record yes 0/316 CON - - - Anne Polvi
-?/. 2 - c.2240A>G r.(?) p.(Asn747Ser) - likely benign g.57105793T>C - TRIM37(NM_001005207.2):c.2240A>G (p.(Asn747Ser)), TRIM37(NM_001353084.1):c.2240A>G (p.N747S) - TRIM37_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/+? 1 21 c.2437_2438insAT r.(?) p.(Leu813Tyrfs*2) - pathogenic (recessive) g.57093110_57093111insTA g.59015749_59015750insTA - - TRIM37_000055 - PubMed: Meyer 2017 - - Germline yes - - - - Kaisa Kettunen
+/+ 1 21 c.2438_2439insAT r.(2438_2439insau) p.(Ile814*) - pathogenic g.57093109_57093110insTA g.59015748_59015749insTA - - TRIM37_000023 1 Turkish MUL family (hom) Kettunen, Okur, Lehesjoki unpublished data - rs312262700 SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.2454C>T r.(?) p.(Ile818=) - likely benign g.57093093G>A g.59015732G>A TRIM37(NM_015294.6):c.2454C>T (p.I818=) - TRIM37_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2512G>A r.(?) p.(Val838Ile) - benign g.57093035C>T g.59015674C>T TRIM37(NM_001005207.4):c.2512G>A (p.V838I) - TRIM37_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.2512G>C r.(?) p.(Val838Leu) - likely benign g.57093035C>G g.59015674C>G TRIM37(NM_015294.6):c.2512G>C (p.V838L) - TRIM37_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2707G>A r.(?) p.(Asp903Asn) - VUS g.57079064C>T - TRIM37(NM_001353084.1):c.2734G>A (p.D912N) - TRIM37_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*18696A>G r.(=) p.(=) - likely benign g.57058042T>C g.58980681T>C PPM1E(NM_014906.4):c.1918T>C (p.(Tyr640His)) - TRIM37_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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