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

173 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-403C>T p.(=) - - - -
./. - - c.-401G>A p.(=) - - - -
./. - - c.-375C>T p.(=) - - - -
./. - - c.-362T>C p.(=) - - - -
./. - - c.-342G>T p.(=) - - - -
./. - - c.-304A>G p.(=) - - - -
./. - - c.-257G>A p.(=) - - - -
./. - - c.-169C>T p.(=) - - - -
./. - - c.-142C>G p.(=) - - - -
./. - - c.-92A>G p.(=) - - - -
./. - - c.-50A>T p.(=) - - - -
./. - - c.-34T>C p.(=) - - - -
./. - - c.-29T>C p.(=) - - - -
./. - - c.-17C>G p.(=) - - - -
./. - - c.-6_6delinsACCCCGAAGG p.? - - - -
./. - - c.1A>G p.? - - - -
./. - - c.31-61T>C p.(=) - - - -
./. - - c.31-25C>T p.(=) - - - -
./. - - c.59del p.(Ser20Phefs*20) - - - -
./. - - c.62G>A p.(Arg21His) - - - -
./. - - c.69T>C p.(=) - - - -
./. - - c.114_115insTTAGGAT p.(Ser42Argfs*3) - - - -
./. - - c.130+1G>T p.? - - - -
./. - - c.130+18T>A p.(=) - - - -
./. - - c.130+57del p.(=) - - - -
./. - - c.130+62del p.(=) - - - -
./. - - c.130+114A>G p.(=) - - - -
./. - - c.139G>A p.(Glu47Lys) - - - -
./. - - c.146A>G p.(Gln49Arg) - - - -
./. - - c.169C>T p.(Arg57Cys) - - - -
./. - - c.170G>A p.(Arg57His) - - - -
./. - - c.181_182del p.(Glu62Glyfs*10) - - - -
+/+ - 3/12 c.211T>C p.(Tyr71His) benign(0.055) missense_variant - tolerated(0.31)
./. - - c.211T>C p.(Tyr71His) - - - -
./. - - c.228+1G>T p.? - - - -
./. - - c.228+2T>G p.? - - - -
./. - - c.228+10T>C p.(=) - - - -
./. - - c.236del p.(Val79Alafs*3) - - - -
./. - - c.245T>C p.(Ile82Thr) - - - -
./. - - c.250A>G p.(Arg84Gly) - - - -
./. - - c.255_256insT p.(Trp86Leufs*23) - - - -
./. - - c.262C>T p.(Leu88Phe) - - - -
./. - - c.265G>A p.(Gly89Ser) - - - -
./. - - c.265G>T p.(Gly89Cys) - - - -
./. - - c.275_276del p.(Ile95Serfs*13) - - - -
./. - - c.299-10G>C p.(=) - - - -
./. - - c.299-2A>G p.? - - - -
./. - - c.299-1G>C p.? - - - -
./. - - c.307G>A p.(Gly103Arg) - - - -
./. - - c.308G>T p.(Gly103Val) - - - -
./. - - c.314G>A p.(Gly105Glu) - - - -
./. - - c.331_334del p.(Ile112Valfs*41) - - - -
./. - - c.354_359del p.(Gly119_Cys120del) - - - -
./. - - c.358T>G p.(Cys120Gly) - - - -
./. - - c.359G>A p.(Cys120Tyr) - - - -
./. - - c.363A>C p.(=) - - - -
./. - - c.363_364delinsCA p.(Gly122Arg) - - - -
./. - - c.374C>T p.(Thr125Ile) - - - -
+/+ - 5/12 c.374C>T p.(Thr125Ile) possibly_damaging(0.454) missense_variant - deleterious(0.03)
./. - - c.396del p.? - - - -
./. - - c.399+1G>A p.? - - - -
./. - - c.399+1G>T p.? - - - -
./. - - c.400-3T>G p.? - - - -
./. - - c.407C>G p.(Pro136Arg) - - - -
./. - - c.434del p.(Lys146Argfs*8) - - - -
./. - - c.436_438del p.(Lys148del) - - - -
./. - - c.438del p.(Lys147Argfs*7) - - - -
./. - - c.442_445del p.(Lys148Ilefs*5) - - - -
./. - - c.447del p.(Leu150Trpfs*4) - - - -
./. - - c.455G>A p.(Arg152Lys) - - - -
./. - - c.458_461del p.(Thr154Argfs*4) - - - -
+/+ - 6/12 c.459G>A p.(Met153Ile) benign(0.013) missense_variant - deleterious(0.05)
./. - - c.459G>A p.(Met153Ile) - - - -
./. - - c.459G>T p.(Met153Ile) - - - -
./. - - c.476T>C p.(Met159Thr) - - - -
./. - - c.480+62C>T p.(=) - - - -
./. - - c.480+71T>C p.(=) - - - -
./. - - c.481-9A>G p.(=) - - - -
./. - - c.481-1G>A p.? - - - -
./. - - c.501T>G p.(=) - - - -
./. - - c.515A>C p.(Asp172Ala) - - - -
./. - - c.520G>T p.(Ala174Ser) - - - -
./. - - c.538G>T p.(Ala180Ser) - - - -
./. - - c.570T>A p.(Asn190Lys) - - - -
./. - - c.589A>G p.(Thr197Ala) - - - -
+/+ - 7/12 c.589A>G p.(Thr197Ala) probably_damaging(0.966) missense_variant - deleterious(0)
./. - - c.592A>G p.(Asn198Asp) - - - -
./. - - c.595G>A p.(Gly199Arg) - - - -
+/+ - 7/12 c.595G>A p.(Gly199Arg) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.611+1G>A p.? - - - -
./. - - c.611+2T>C p.? - - - -
./. - - c.611+5G>A p.? - - - -
./. - - c.612-18G>A p.(=) - - - -
./. - - c.614A>G p.(Tyr205Cys) - - - -
./. - - c.621A>C p.(Leu207Phe) - - - -
./. - - c.628C>T p.(Arg210Cys) - - - -
./. - - c.629G>A p.(Arg210His) - - - -
./. - - c.636T>C p.(=) - - - -
./. - - c.673G>A p.(Gly225Arg) - - - -
./. - - c.690A>G p.(=) - - - -
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