Transcript #00000154

Transcript name adenosine monophosphate deaminase 1, transcript variant 1
Gene name AMPD1 (adenosine monophosphate deaminase 1)
Chromosome 1
Transcript - NCBI ID NM_000036.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000027.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

8 entries on 1 page. Showing entries 1 - 8.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.51C>T likely benign r.(=) p.(=)
?/. - c.242C>T - r.(?) p.(Pro81Leu)
?/. - c.242C>T - r.(?) p.(Pro81Leu)
?/. - c.242C>T - r.(?) p.(Pro81Leu)
?/. - c.242C>T - r.(?) p.(Pro81Leu)
-?/. - c.481-4del likely benign r.spl? p.?
-/. - c.959A>T benign r.(?) p.(Lys320Ile)
-?/. - c.2085G>A likely benign r.(?) p.(Met695Ile)
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