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

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.31-73T>C p.(=) - - - -
./. - - c.31-37C>T p.(=) - - - -
./. - - c.47del p.(Ser16Phefs*20) - - - -
./. - - c.50G>A p.(Arg17His) - - - -
./. - - c.57T>C p.(=) - - - -
./. - - c.102_103insTTAGGAT p.(Ser38Argfs*3) - - - -
./. - - c.118+1G>T p.? - - - -
./. - - c.118+18T>A p.(=) - - - -
./. - - c.118+57del p.(=) - - - -
./. - - c.118+62del p.(=) - - - -
./. - - c.118+114A>G p.(=) - - - -
./. - - c.127G>A p.(Glu43Lys) - - - -
./. - - c.134A>G p.(Gln45Arg) - - - -
./. - - c.157C>T p.(Arg53Cys) - - - -
./. - - c.158G>A p.(Arg53His) - - - -
./. - - c.169_170del p.(Glu58Glyfs*10) - - - -
./. - - c.199T>C p.(Tyr67His) - - - -
+/+ - 3/12 c.199T>C p.(Tyr67His) benign(0.037) missense_variant - tolerated(0.32)
./. - - c.216+1G>T p.? - - - -
./. - - c.216+2T>G p.? - - - -
./. - - c.216+10T>C p.(=) - - - -
./. - - c.224del p.(Val75Alafs*3) - - - -
./. - - c.233T>C p.(Ile78Thr) - - - -
./. - - c.238A>G p.(Arg80Gly) - - - -
./. - - c.243_244insT p.(Trp82Leufs*23) - - - -
./. - - c.250C>T p.(Leu84Phe) - - - -
./. - - c.253G>A p.(Gly85Ser) - - - -
./. - - c.253G>T p.(Gly85Cys) - - - -
./. - - c.263_264del p.(Ile91Serfs*13) - - - -
./. - - c.287-10G>C p.(=) - - - -
./. - - c.287-2A>G p.? - - - -
./. - - c.287-1G>C p.? - - - -
./. - - c.295G>A p.(Gly99Arg) - - - -
./. - - c.296G>T p.(Gly99Val) - - - -
./. - - c.302G>A p.(Gly101Glu) - - - -
./. - - c.319_322del p.(Ile108Valfs*41) - - - -
./. - - c.342_347del p.(Gly115_Cys116del) - - - -
./. - - c.346T>G p.(Cys116Gly) - - - -
./. - - c.347G>A p.(Cys116Tyr) - - - -
./. - - c.351A>C p.(=) - - - -
./. - - c.351_352delinsCA p.(Gly118Arg) - - - -
+/+ - 5/12 c.362C>T p.(Thr121Ile) benign(0.373) missense_variant - deleterious(0.04)
./. - - c.362C>T p.(Thr121Ile) - - - -
./. - - c.384del p.? - - - -
./. - - c.387+1G>A p.? - - - -
./. - - c.387+1G>T p.? - - - -
./. - - c.388-3T>G p.? - - - -
./. - - c.395C>G p.(Pro132Arg) - - - -
./. - - c.422del p.(Lys142Argfs*8) - - - -
./. - - c.424_426del p.(Lys144del) - - - -
./. - - c.426del p.(Lys143Argfs*7) - - - -
./. - - c.430_433del p.(Lys144Ilefs*5) - - - -
./. - - c.435del p.(Leu146Trpfs*4) - - - -
./. - - c.443G>A p.(Arg148Lys) - - - -
./. - - c.446_449del p.(Thr150Argfs*4) - - - -
./. - - c.447G>A p.(Met149Ile) - - - -
+/+ - 6/12 c.447G>A p.(Met149Ile) benign(0.013) missense_variant - deleterious(0.05)
./. - - c.447G>T p.(Met149Ile) - - - -
./. - - c.464T>C p.(Met155Thr) - - - -
./. - - c.468+62C>T p.(=) - - - -
./. - - c.468+71T>C p.(=) - - - -
./. - - c.469-9A>G p.(=) - - - -
./. - - c.469-1G>A p.? - - - -
./. - - c.489T>G p.(=) - - - -
./. - - c.503A>C p.(Asp168Ala) - - - -
./. - - c.508G>T p.(Ala170Ser) - - - -
./. - - c.526G>T p.(Ala176Ser) - - - -
./. - - c.558T>A p.(Asn186Lys) - - - -
+/+ - 7/12 c.577A>G p.(Thr193Ala) probably_damaging(0.992) missense_variant - deleterious(0)
./. - - c.577A>G p.(Thr193Ala) - - - -
./. - - c.580A>G p.(Asn194Asp) - - - -
+/+ - 7/12 c.583G>A p.(Gly195Arg) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.583G>A p.(Gly195Arg) - - - -
./. - - c.599+1G>A p.? - - - -
./. - - c.599+2T>C p.? - - - -
./. - - c.599+5G>A p.? - - - -
./. - - c.600-18G>A p.(=) - - - -
./. - - c.602A>G p.(Tyr201Cys) - - - -
./. - - c.609A>C p.(Leu203Phe) - - - -
./. - - c.616C>T p.(Arg206Cys) - - - -
./. - - c.617G>A p.(Arg206His) - - - -
./. - - c.624T>C p.(=) - - - -
./. - - c.661G>A p.(Gly221Arg) - - - -
./. - - c.678A>G p.(=) - - - -
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