Transcript #00022338

Transcript name UDP glucuronosyltransferase 1 family, polypeptide A1
Gene name UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1)
Chromosome 2
Transcript - NCBI ID NM_000463.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000454.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

69 entries on 1 page. Showing entries 1 - 69.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-123006C>T VUS r.(?) p.(=)
?/. - c.-122936G>A VUS r.(?) p.(=)
?/. - c.-67124C>G VUS r.(?) p.(=)
./. 1 c.1A>G - r.? p.(Met1Val)
+/. - c.44T>G pathogenic r.(?) p.(Leu15Arg)
+/+ 1 c.44T>G - r.(?) p.(Leu15Arg)
+/. - c.85A>T pathogenic r.(?) p.(Lys29*)
+/+ 1 c.101C>A - r.(?) p.(Pro34Gln)
+?/+? 1 c.115C>G - r.(?) p.(His39Asp)
?/? 1 c.118T>C - r.(?) p.(Trp40Arg)
+/. - c.145C>T pathogenic r.(?) p.(Gln49*)
?/. - c.182C>G VUS r.(?) p.(Ala61Gly)
-/. - c.189C>T benign r.(?) p.(=)
+/+ 1 c.211G>A - r.(?) p.(Gly71Arg)
+?/. - c.211G>A likely pathogenic r.(?) p.(Gly71Arg)
+/. - c.222C>A pathogenic r.(?) p.(Tyr74*)
+/. - c.222C>A pathogenic r.(?) p.(Tyr74*)
-/- 1 c.233C>T - r.(?) p.(Thr78Met)
+/+ 1 c.247T>C - r.(?) p.(Phe83Leu)
-?/. - c.285C>T likely benign r.(?) p.(=)
?/. - c.322C>T VUS r.(?) p.(Arg108Cys)
+/. - c.470del pathogenic r.(?) p.(Ser157Thrfs*48)
?/. - c.470G>A VUS r.(?) p.(Ser157Asn)
-?/. - c.477C>A likely benign r.(?) p.(=)
+/+ 1 c.524T>A - r.(?) p.(Leu175Gln)
+/+ 1 c.529T>C - r.(?) p.(Cys177Arg)
-/. - c.540A>G benign r.(?) p.(=)
?/. - c.572C>T VUS r.(?) p.(Ser191Phe)
+/. - c.576C>A pathogenic r.(?) p.(Tyr192*)
+/. - c.625C>T pathogenic r.(?) p.(Arg209Trp)
+/+ 1 c.625C>T - r.(?) p.(Arg209Trp)
-?/-? 1 c.643A>G - r.(?) p.(Ile215Val)
+/+ 1 c.674T>G - r.(?) p.(Val225Gly)
+/. - c.674T>G pathogenic r.(?) p.(Val225Gly)
+?/. - c.674T>G likely pathogenic r.(?) p.(Val225Gly)
+/+ 1 c.686C>A - r.(?) p.(Pro229Gln)
+/. - c.808_816del pathogenic r.(?) p.(Pro270_Met272del)
+?/. - c.822del likely pathogenic r.(?) p.(Phe274Leufs*92)
+/+ 1 c.826G>T - r.(?) p.(Gly276Cys)
+/. - c.835A>T pathogenic r.(?) p.(Asn279Tyr)
+/. - c.839del pathogenic r.(?) p.(Cys280Serfs*86)
+/. - c.840C>A pathogenic r.(?) p.(Cys280*)
+/. - c.877_891delinsA pathogenic r.(?) p.(Tyr293Argfs*27)
+/. - c.923G>A pathogenic r.(?) p.(Gly308Glu)
?/. - c.964A>G VUS r.(?) p.(Ile322Val)
-/. - c.996+15T>C benign r.(=) p.(=)
-/. - c.996+18C>T benign r.(=) p.(=)
-/. - c.997-100_997-99insGT benign r.(=) p.(=)
+/. - c.1005G>A pathogenic r.(?) p.(Trp335*)
+/. - c.1006C>T pathogenic r.(?) p.(Arg336Trp)
+/. - c.1007_1010dup pathogenic r.(?) p.(Tyr337*)
+/. - c.1070A>G pathogenic r.(?) p.(Gln357Arg)
+?/. - c.1091C>T likely pathogenic r.(?) p.(Pro364Leu)
-?/. - c.1122T>C likely benign r.(?) p.(=)
+?/. - c.1145_1150del likely pathogenic r.(?) p.(Ile382_Cys383del)
?/. - c.1148G>A VUS r.(?) p.(Cys383Tyr)
-?/. - c.1149C>T likely benign r.(?) p.(=)
+/. - c.1160C>A pathogenic r.(?) p.(Pro387His)
+/. - c.1205A>C pathogenic r.(?) p.(Lys402Thr)
?/. - c.1207C>T VUS r.(?) p.(Arg403Cys)
+/. - c.1220del pathogenic r.(?) p.(Lys407Argfs*5)
+/. - c.1220del pathogenic r.(?) p.(Lys407Argfs*5)
+/. - c.1304+1G>T pathogenic r.spl? p.?
?/. - c.1348C>T VUS r.(?) p.(Arg450Cys)
?/. - c.1429G>A VUS r.(?) p.(Ala477Thr)
+/. - c.1456T>G pathogenic r.(?) p.(Tyr486Asp)
+/. - c.1489del pathogenic r.(?) p.(Ala497Profs*4)
-?/. - c.1495G>A likely benign r.(?) p.(Val499Met)
+?/. - c.1567C>T likely pathogenic r.(?) p.(Arg523*)
Legend