Transcript #00000384

Transcript name transcript variant 1
Gene name ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain)
Chromosome 1
Transcript - NCBI ID NM_000016.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000007.1
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.199T>C p.(Tyr67His) benign(0.037) missense_variant - tolerated(0.32)
+/+ - 5/12 c.362C>T p.(Thr121Ile) benign(0.373) missense_variant - deleterious(0.04)
+/+ - 6/12 c.447G>A p.(Met149Ile) benign(0.013) missense_variant - deleterious(0.05)
+/+ - 7/12 c.577A>G p.(Thr193Ala) probably_damaging(0.992) missense_variant - deleterious(0)
+/+ - 7/12 c.583G>A p.(Gly195Arg) probably_damaging(0.999) missense_variant - deleterious(0)
+/+ - 9/12 c.730T>C p.(Cys244Arg) probably_damaging(0.98) missense_variant - deleterious(0)
+/+ - 9/12 c.734C>T p.(Ser245Leu) probably_damaging(0.995) missense_variant - deleterious(0)
+/+ - 9/12 c.799G>A p.(Gly267Arg) probably_damaging(0.994) missense_variant - deleterious(0)
+/+ - 9/12 c.842G>C p.(Arg281Thr) probably_damaging(0.999) missense_variant - deleterious(0)
+/+ - 11/12 c.985A>G p.(Lys329Glu) benign(0.073) missense_variant - tolerated(0.31)
./. - 11/12 c.985A>G p.(Lys329Glu) benign(0.073) missense_variant - tolerated(0.31)
+/+ - - c.1102_1105del p.(Ala369Leufs*18) - - - -
+/+ - 11/12 c.1124T>C p.(Ile375Thr) probably_damaging(0.975) missense_variant - deleterious(0)
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