Transcript #00008371

Transcript name GATA binding protein 6
Gene name GATA6 (GATA binding protein 6)
Chromosome 18
Transcript - NCBI ID NM_005257.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_005248.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-37-17C>A likely benign r.(=) p.(=)
-/. - c.43G>C benign r.(?) p.(Gly15Arg)
-?/. - c.43G>C likely benign r.(?) p.(Gly15Arg)
-?/. - c.43G>C likely benign r.(?) p.(Gly15Arg)
?/. - c.60C>A VUS r.(?) p.(Asp20Glu)
-?/. - c.149G>A likely benign r.(?) p.(Gly50Glu)
-/. - c.222G>A benign r.(?) p.(=)
?/. - c.271C>T VUS r.(?) p.(Pro91Ser)
?/. - c.320C>G VUS r.(?) p.(Ser107Trp)
-?/. - c.334T>C likely benign r.(?) p.(=)
-?/. - c.335T>G likely benign r.(?) p.(Leu112Trp)
?/. - c.481G>T VUS r.(?) p.(Ala161Ser)
?/. - c.546_547insAGCAGCCGCGGCGGC VUS r.(?) p.(Ala182_Ala183insSerSerArgGlyGly)
-?/. - c.627C>A likely benign r.(?) p.(=)
+?/. - c.739_740insGCGGGGCG likely pathogenic r.(?) p.(Ala247Glyfs*50)
-?/. - c.849G>A likely benign r.(?) p.(=)
-?/. - c.889G>A likely benign r.(?) p.(Gly297Ser)
-?/. - c.941C>G likely benign r.(?) p.(Ser314Trp)
-?/. - c.968_969insACC likely benign r.(?) p.(Tyr323*)
?/. - c.968_969insACCACC VUS r.(?) p.(Tyr323*)
?/. - c.993_998dup VUS r.(?) p.(His332_His333dup)
-?/. - c.998_1000del likely benign r.(?) p.(His333del)
-?/. - c.1006C>T likely benign r.(?) p.(Pro336Ser)
-?/. - c.1023G>C likely benign r.(?) p.(=)
-?/. - c.1103C>T likely benign r.(?) p.(Ala368Val)
?/. - c.1106C>G VUS r.(?) p.(Pro369Arg)
-?/. - c.1135+9C>G likely benign r.(=) p.(=)
+?/. - c.1170C>A likely pathogenic r.(?) p.(Cys390*)
+?/. - c.1170C>A likely pathogenic r.(?) p.(Cys390*)
-?/. - c.1298G>T likely benign r.(?) p.(Arg433Leu)
-/. - c.1302+20C>T benign r.(=) p.(=)
+/. - c.1303-2A>G pathogenic r.spl? p.?
-?/. - c.1350A>G likely benign r.(?) p.(=)
?/. - c.1365G>A VUS r.(?) p.(Trp455*)
+?/. - c.1367G>A likely pathogenic r.(?) p.(Arg456His)
-?/. - c.1374C>T likely benign r.(?) p.(=)
-/. - c.1374C>T benign r.(?) p.(=)
-?/. - c.1375G>A likely benign r.(?) p.(Ala459Thr)
-?/. - c.1377C>T likely benign r.(?) p.(=)
?/. - c.1466A>C VUS r.(?) p.(Gln489Pro)
-?/. - c.1516+17G>A likely benign r.(=) p.(=)
-?/. - c.1602A>G likely benign r.(?) p.(=)
-/. - c.1602A>G benign r.(?) p.(=)
-?/. - c.1605A>G likely benign r.(?) p.(=)
-/. - c.1620+7A>G benign r.(=) p.(=)
-?/. - c.1723G>C likely benign r.(?) p.(Ala575Pro)
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