Transcript #00001839

Transcript name aminoadipate-semialdehyde synthase
Gene name AASS (aminoadipate-semialdehyde synthase)
Chromosome 7
Transcript - NCBI ID NM_005763.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005754.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

13 entries on 1 page. Showing entries 1 - 13.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-13789760_*716479del - r.0? p.0?
?/. - c.394C>T VUS r.(?) p.(Arg132Cys)
?/. - c.992C>T VUS r.(?) p.(Pro331Leu)
?/. - c.1092G>T VUS r.(?) p.(Glu364Asp)
-?/. - c.1236A>T likely benign r.(?) p.(=)
-?/. - c.1407-9_1407-7dup likely benign r.(=) p.(=)
-?/. - c.1407-8_1407-7dup likely benign r.(=) p.(=)
-?/. - c.1407-7del likely benign r.(=) p.(=)
-?/. - c.1407-7dup likely benign r.(=) p.(=)
./. - c.1678C>T - r.(?) p.(Pro560Ser)
?/. - c.1774G>T VUS r.(?) p.(Asp592Tyr)
?/. - c.2276C>T VUS r.(?) p.(Thr759Ile)
-?/. - c.2729G>A likely benign r.(?) p.(Arg910Gln)
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