Unique variants in gene UGT1A1

Information The variants shown are described using the NM_000463.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 1 c.1A>G - r.? p.(Met1Val) g.234668934A>G g.233760288A>G - - UGT1A1_000002 Phenotype: Crigler Najjar Syndrome type II and 6TA/6TA in the promoter PubMed: Petit et al. 2006 - - Germline - - - - - Giulia Canu
+/., +/+ 2 1 c.44T>G pathogenic r.(?) p.(Leu15Arg) g.234668977T>G g.233760331T>G UGT1A1:c.44T>G (L15R) - UGT1A1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Seppen J et al.1996 - rs111033541 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Giulia Canu
+/. 1 - c.85A>T pathogenic r.(?) p.(Lys29*) g.234669018A>T - UGT1A1:c.85A>T (K29*) - UGT1A1_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.101C>A - r.(?) p.(Pro34Gln) g.234669034C>A g.233760388C>A - - UGT1A1_000004 1 more item PubMed: Servedio V et al.2005 - - Germline - - - - - Giulia Canu
+?/+? 1 1 c.115C>G - r.(?) p.(His39Asp) g.234669048C>G g.233760402C>G - - UGT1A1_000005 Phenotype: Crigler Najjar Syndrome type I PubMed: Kadakol A et al. 2000 - rs7255339 Germline - - - - - Giulia Canu
?/? 1 1 c.118T>C - r.(?) p.(Trp40Arg) g.234669051T>C g.233760405T>C - - UGT1A1_000006 1 more item PubMed: Petit F et al. 2006 - - Germline - - - - - Giulia Canu
+/. 1 - c.145C>T pathogenic r.(?) p.(Gln49*) g.234669078C>T - UGT1A1:c.145C>T (Q49*) - UGT1A1_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.189C>T benign r.(=) p.(=) g.234669122C>T - UGT1A1:c.189C>T (=) - UGT1A1_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +?/. 2 1 c.211G>A likely pathogenic r.(?) p.(Gly71Arg) g.234669144G>A g.233760498G>A UGT1A1:NM_000463.2:c.211G>A (Gly71Arg) - UGT1A1_000001 6TA/6TA in the promoter. Phenotype : Crigler Najjar Syndrome type II, 1 more item PubMed: Aono S et al. 1993 - rs4148323 Germline, CLASSIFICATION record - - - - - Giulia Canu, VKGL-NL_Nijmegen
+/. 1 - c.222C>A pathogenic r.(?) p.(Tyr74*) g.234669155C>A - UGT1A1:c.222C>A (Y74*) - UGT1A1_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/- 1 1 c.233C>T - r.(?) p.(Thr78Met) g.234669166C>T g.233760520C>T - - UGT1A1_000007 Phenotype: Normal PubMed: Yea SS et al. 2008 - - Unknown - - - - - Giulia Canu
+/+ 1 1 c.247T>C - r.(?) p.(Phe83Leu) g.234669180T>C g.233760534T>C - - UGT1A1_000008 6TA/6TA in the promoter. Phenotype: Gilbert's Syndrome PubMed: Sutomo R et al. 2002 - rs5605993 Germline - - - - - Giulia Canu
+/. 1 - c.470del pathogenic r.(?) p.(Ser157Thrfs*48) g.234669403del - UGT1A1:c.470delG (S157Tfs*48) - UGT1A1_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.524T>A - r.(?) p.(Leu175Gln) g.234669457T>A g.233760811T>A - - UGT1A1_000011 Phenotype: Crigler Najjar Syndrome type II PubMed: Seppen J et al. 1994 - rs72551341 Germline - - - - - Giulia Canu
+/+ 1 1 c.529T>C - r.(?) p.(Cys177Arg) g.234669462T>C g.233760816T>C - - UGT1A1_000009 Compound heterozygote for other mutation. Phenotype: Crigler Najjar Syndrome type I. PubMed: Seppen J et al. 1994 - rs7255342 Germline - - - - - Giulia Canu
-/. 1 - c.540A>G benign r.(=) p.(=) g.234669473A>G - UGT1A1:c.540A>G (=) - UGT1A1_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.572C>T VUS r.(?) p.(Ser191Phe) g.234669505C>T - UGT1A1:c.572C>T (S191F) - UGT1A1_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.576C>A pathogenic r.(?) p.(Tyr192*) g.234669509C>A - UGT1A1:c.576C>A (Y192*) - UGT1A1_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/+ 2 1 c.625C>T pathogenic r.(?) p.(Arg209Trp) g.234669558C>T g.233760912C>T UGT1A1:c.625C>T (R209W) - UGT1A1_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Bosma PJ et al. 1994 - rs72551343 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Giulia Canu
-?/-? 1 1 c.643A>G - r.(?) p.(Ile215Val) g.234669576A>G g.233760930A>G - - UGT1A1_000013 Compound heterozygote for c.-3279 T>G and 6TA/7TA in the promoter. Phenotype: Normal. PubMed: Rodrigues C et al. 2012 - rs144398951 Germline - - - - - Giulia Canu
+/+, +/., +?/. 3 1 c.674T>G pathogenic, likely pathogenic r.(?) p.(Val225Gly) g.234669607T>G g.233760961T>G UGT1A1:c.674T>G (V225G), UGT1A1:NM_000463.2:c.674T>G (Val225Gly) - UGT1A1_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Iolascon A et al. 2000 - rs35003977 Germline, CLASSIFICATION record - - - - - Giulia Canu, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+ 1 1 c.686C>A - r.(?) p.(Pro229Gln) g.234669619C>A g.233760973C>A - - UGT1A1_000014 7TA/7TA in the promoter. Phenotype: Gilbert's Syndrome. PubMed: Koiwai O et al.1995 - rs35350960 Germline - - - - - Giulia Canu
+/. 1 - c.808_816del pathogenic r.(?) p.(Pro270_Met272del) g.234669741_234669749del - UGT1A1:c.808_816delCCCAATATG (P270_M272del) - UGT1A1_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.818del likely pathogenic r.(?) p.(Phe274Leufs*92) g.234669751del - UGT1A1:c.822delT (F274Lfs*92) - UGT1A1_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.826G>T - r.(?) p.(Gly276Cys) g.234669759G>T g.233761113G>T - - UGT1A1_000015 Phenotype: Crigler Najjar Syndrome type I. PubMed: Seppen J et al.1994 - rs72551345 Germline - - - - - Giulia Canu
+/. 1 - c.835A>T pathogenic r.(?) p.(Asn279Tyr) g.234669768A>T - UGT1A1:c.835A>T (N279Y) - UGT1A1_000024 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.839del pathogenic r.(?) p.(Cys280Serfs*86) g.234669772del - UGT1A1:c.839delG (C280Sfs*86) - UGT1A1_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.877_891delinsA pathogenic r.(?) p.(Tyr293Argfs*27) g.234675692_234675706delinsA - UGT1A1:c.877_891delTACATTAATGCTTCTinsA (Y293Rfs*27) - UGT1A1_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.923G>A pathogenic r.(?) p.(Gly308Glu) g.234675738G>A - UGT1A1:c.923G>A (G308E) - UGT1A1_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.964A>G likely benign r.(?) p.(Ile322Val) g.234675779A>G - UGT1A8:NM_000463.2:c.964A>G, NM_001072.3:c.961A>G, … - UGT1A1_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.996+15T>C benign r.(=) p.(=) g.234675826T>C - UGT1A1:c.996+15T>C - UGT1A1_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.996+18C>T benign r.(=) p.(=) g.234675829C>T - UGT1A1:c.996+18C>T - UGT1A1_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.997-100_997-99dup benign r.(=) p.(=) g.234676395_234676396dup - UGT1A1:c.997-100_997-99insGT - UGT1A1_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1005G>A pathogenic r.(?) p.(Trp335*) g.234676503G>A - UGT1A1:c.1005G>A (W335*) - UGT1A1_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1006C>T pathogenic r.(?) p.(Arg336Trp) g.234676504C>T - UGT1A1:c.1006C>T (R336W) - UGT1A1_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1070A>G pathogenic r.(?) p.(Gln357Arg) g.234676568A>G - UGT1A1:c.1070A>G (Q357R) - UGT1A1_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1091C>T likely pathogenic r.(?) p.(Pro364Leu) g.234676872C>T - UGT1A1:c.1091C>T (P364L) - UGT1A1_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1122T>C likely benign r.(=) p.(=) g.234676903T>C - UGT1A1:c.1122T>C (=) - UGT1A1_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1148G>A VUS r.(?) p.(Cys383Tyr) g.234676929G>A - UGT1A6:c.1145G>A (C382Y) - UGT1A1_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1149C>T likely benign r.(=) p.(=) g.234676930C>T - UGT1A6:c.1146C>T (=) - UGT1A1_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1160C>A pathogenic r.(?) p.(Pro387His) g.234676941C>A - UGT1A1:c.1160C>A (P387H) - UGT1A1_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1205A>C pathogenic r.(?) p.(Lys402Thr) g.234676986A>C - UGT1A1:c.1205A>C (K402T) - UGT1A1_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1207C>T VUS r.(?) p.(Arg403Cys) g.234676988C>T - UGT1A1:c.1207C>T (R403C) - UGT1A1_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1220del pathogenic r.(?) p.(Lys407Argfs*5) g.234677001del - UGT1A1:c.1220delA (K407Rfs*5), UGT1A1:NM_000463.2:c.1220del (Lys407fs) - UGT1A1_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.1304+1G>T pathogenic r.(=) p.(=) g.234677086G>T - UGT1A1:c.1304+1G>T - UGT1A1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1348C>T VUS r.(?) p.(Arg450Cys) g.234680951C>T - UGT1A1:c.1348C>T (R450C) - UGT1A1_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1429G>A VUS r.(?) p.(Ala477Thr) g.234681032G>A - UGT1A1:c.1429G>A (A477T) - UGT1A1_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1456T>G pathogenic r.(?) p.(Tyr486Asp) g.234681059T>G - UGT1A1:c.1456T>G (Y486D) - UGT1A1_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1489del pathogenic r.(?) p.(Ala497Profs*4) g.234681092del - UGT1A1:c.1489delG (A497Pfs*4) - UGT1A1_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1495G>A likely benign r.(?) p.(Val499Met) g.234681098G>A - UGT1A1:c.1495G>A (V499M) - UGT1A1_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1567C>T likely pathogenic r.(?) p.(Arg523*) g.234681170C>T - UGT1A1:c.1567C>T (R523*) - UGT1A1_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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