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 -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.51C>T likely benign r.(?) p.(=)
?/. - c.133C>T VUS r.(?) p.(Gln45*)
?/. - c.134-7_134-4del VUS r.spl? p.?
?/. - c.242C>T - r.(?) p.(Pro81Leu)
?/. - c.242C>T - r.(?) p.(Pro81Leu)
?/. - c.242C>T - r.(?) p.(Pro81Leu)
-/. - c.242C>T benign r.(?) p.(Pro81Leu)
?/. - c.242C>T - r.(?) p.(Pro81Leu)
-/. - c.323G>A benign r.(?) p.(Arg108His)
-?/. - c.481-4del likely benign r.spl? p.?
?/. - c.493G>A VUS r.(?) p.(Asp165Asn)
?/. - c.959A>T VUS r.(?) p.(Lys320Ile)
-/. - c.959A>T benign r.(?) p.(Lys320Ile)
-?/. - c.2085G>A likely benign r.(?) p.(Met695Ile)
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