View transcript #00000383

Transcript name transcript variant 3
Gene name ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain)
Chromosome 1
Transcript - NCBI ID NM_001127328.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001120800.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 3/12 c.211T>C p.(Tyr71His) benign(0.055) missense_variant - tolerated(0.31)
+/+ - 5/12 c.374C>T p.(Thr125Ile) possibly_damaging(0.454) missense_variant - deleterious(0.03)
+/+ - 6/12 c.459G>A p.(Met153Ile) benign(0.013) missense_variant - deleterious(0.05)
+/+ - 7/12 c.589A>G p.(Thr197Ala) probably_damaging(0.966) missense_variant - deleterious(0)
+/+ - 7/12 c.595G>A p.(Gly199Arg) probably_damaging(0.997) missense_variant - deleterious(0)
+/+ - 9/12 c.742T>C p.(Cys248Arg) probably_damaging(0.997) missense_variant - deleterious(0)
+/+ - 9/12 c.746C>T p.(Ser249Leu) probably_damaging(0.998) missense_variant - deleterious(0)
+/+ - 9/12 c.811G>A p.(Gly271Arg) probably_damaging(0.99) missense_variant - deleterious(0)
+/+ - 9/12 c.854G>C p.(Arg285Thr) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.997A>G p.(Lys333Glu) - - - -
./. - 11/12 c.997A>G p.(Lys333Glu) benign(0.164) missense_variant - tolerated(0.31)
+/+ - - c.1114_1117del p.(Ala373Leufs*18) - - - -
+/+ - 11/12 c.1136T>C p.(Ile379Thr) probably_damaging(0.996) missense_variant - deleterious(0)
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