Transcript #00001957

Transcript name transcript variant 2
Gene name ACD (adrenocortical dysplasia homolog (mouse))
Chromosome 16
Transcript - NCBI ID NM_022914.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_075065.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

32 entries on 1 page. Showing entries 1 - 32.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-3541G>A likely benign r.(?) p.(=)
-?/. - c.-2799G>A likely benign r.(?) p.(=)
?/. - c.-1913C>T VUS r.(?) p.(=)
-?/. - c.175G>A likely benign r.(?) p.(Glu59Lys)
-/. - c.338G>A benign r.(?) p.(Arg113Gln)
+/. - c.499_501del pathogenic r.(?) p.(Lys167del)
?/. - c.862A>G VUS r.(?) p.(Thr288Ala)
?/. - c.1066_1077del VUS r.(?) p.(Pro356_Ser359del)
-?/. - c.1068C>T likely benign r.(?) p.(=)
-?/. - c.1095C>T likely benign r.(?) p.(=)
-?/. - c.1430G>A likely benign r.(?) p.(Gly477Glu)
-?/. - c.*170G>C likely benign r.(=) p.(=)
-?/. - c.*1023G>A likely benign r.(=) p.(=)
?/. - c.*2945T>A VUS r.(=) p.(=)
-?/. - c.*3165G>T likely benign r.(=) p.(=)
-?/. - c.*4585C>T likely benign r.(=) p.(=)
?/. - c.*5779T>A VUS r.(=) p.(=)
-/. - c.*6211G>A benign r.(=) p.(=)
-?/. - c.*6318G>A likely benign r.(=) p.(=)
-?/. - c.*6318G>A likely benign r.(=) p.(=)
-?/. - c.*8010C>A likely benign r.(=) p.(=)
?/. - c.*9656C>T VUS r.(=) p.(=)
-?/. - c.*9672C>G likely benign r.(=) p.(=)
+/. - c.*10007G>A pathogenic r.(=) p.(=)
-?/. - c.*10065C>T likely benign r.(=) p.(=)
-?/. - c.*10065C>T likely benign r.(=) p.(=)
?/. - c.*10078G>A VUS r.(=) p.(=)
?/. - c.*10221C>A VUS r.(=) p.(=)
?/. - c.*10845G>C VUS r.(=) p.(=)
-?/. - c.*11304C>T likely benign r.(=) p.(=)
-?/. - c.*11549C>T likely benign r.(=) p.(=)
-?/. - c.*11577C>A likely benign r.(=) p.(=)
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