Transcript #00003280

Transcript name transcript variant delta
Gene name BAX (BCL2-associated X protein)
Chromosome 19
Transcript - NCBI ID NM_138763.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_620118.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.86+248A>G benign r.(=) p.(=)
+/. - c.*3704G>A pathogenic r.(=) p.(=)
+/. - c.*3704G>A pathogenic r.(=) p.(=)
+/. - c.*3704G>C pathogenic r.(=) p.(=)
+/. - c.*3705C>T pathogenic r.(=) p.(=)
+/. - c.*3711C>T pathogenic r.(=) p.(=)
+/. - c.*3711_*3712del pathogenic r.(=) p.(=)
-?/. - c.*3759G>A likely benign r.(=) p.(=)
+/. - c.*3872A>G pathogenic r.(=) p.(=)
?/. - c.*3954C>G VUS r.(=) p.(=)
-?/. - c.*4120A>G likely benign r.(=) p.(=)
-/. - c.*4194T>C benign r.(=) p.(=)
-/. - c.*4194T>C benign r.(=) p.(=)
-/. - c.*4194T>C benign r.(=) p.(=)
-/. - c.*4194T>C benign r.(=) p.(=)
-?/. - c.*4221G>A likely benign r.(=) p.(=)
-?/. - c.*4265C>T likely benign r.(=) p.(=)
-?/. - c.*4279A>G likely benign r.(=) p.(=)
?/. - c.*5007G>A VUS r.(=) p.(=)
?/. - c.*5034C>T VUS r.(=) p.(=)
?/. - c.*5060C>T VUS r.(=) p.(=)
-/. - c.*5093C>T benign r.(=) p.(=)
-/. - c.*5093C>T benign r.(=) p.(=)
-?/. - c.*5093C>T likely benign r.(=) p.(=)
-?/. - c.*5093C>T likely benign r.(=) p.(=)
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