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

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.62A>C likely benign r.(?) p.(His21Pro)
-/. - c.124-20T>C benign r.(=) p.(=)
-?/. - c.430G>T likely benign r.(?) p.(Ala144Ser)
-/. - c.580T>C benign r.(?) p.(=)
-/. - c.756C>T benign r.(?) p.(=)
?/. - c.925C>T VUS r.(?) p.(Arg309*)
-?/. - 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.1418C>G likely benign r.(?) p.(Ala473Gly)
?/. - c.*407C>T VUS r.(=) p.(=)
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