Transcript #00024311

Transcript name achalasia, adrenocortical insufficiency, alacrimia, transcript variant 2
Gene name AAAS (achalasia, adrenocortical insufficiency, alacrimia)
Chromosome 12
Transcript - NCBI ID NM_001173466.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001166937.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. - c.43C>A pathogenic r.(?) p.(Gln15Lys)
-/. - c.124-20T>C benign r.(=) p.(=)
-?/. - c.356G>A likely benign r.(?) p.(Arg119Gln)
-/. - c.580T>C benign r.(?) p.(=)
+?/. - c.688T>C - r.(?) p.(Ser230Pro)
-/. - c.756C>T benign r.(?) p.(=)
+?/. - c.925C>T likely pathogenic r.(?) p.(Arg309*)
?/. - c.925C>T VUS r.(?) p.(Arg309*)
-?/. - c.1135G>A likely benign r.(?) p.(Ala379Thr)
-?/. - c.1150+8G>A likely benign r.(=) p.(=)
-?/. - c.1202G>A likely benign r.(?) p.(Arg401Gln)
+/. - c.1232+1G>A pathogenic r.spl? p.?
+/. - c.1232+1G>A pathogenic r.spl? p.?
+/. - c.1232+1G>A pathogenic r.spl? p.?
-?/. - c.1318-3C>T likely benign r.spl? p.?
?/. - c.*407C>T VUS r.(=) p.(=)
Legend