Transcript #00000388

Transcript name transcript variant 3
Gene name ACADVL (acyl-CoA dehydrogenase, very long chain)
Chromosome 17
Transcript - NCBI ID NM_001270447.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001257376.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

361 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.28+1G>A p.? - - - -
./. - - c.52A>G p.(Ile18Val) - - - -
./. - - c.53_54insAGAAGC p.(Glu21_Ala22dup) - - - -
./. - - c.67C>T p.(Gln23*) - - - -
./. - - c.82C>T p.(Gln28*) - - - -
./. - - c.89G>A p.(Trp30*) - - - -
./. - - c.109_110insCGATGA p.(Met38_Thr39dup) - - - -
./. - - c.115_119del p.(Thr39Lysfs*41) - - - -
./. - - c.132-269C>T p.(=) - - - -
./. - - c.132-201T>C p.(=) - - - -
./. - - c.132-201_132-200insGGGCGTGCAGGACGC p.(=) - - - -
./. - - c.132-173A>G p.(=) - - - -
./. - - c.132-135G>A p.(=) - - - -
./. - - c.132-124_132-108del p.(=) - - - -
./. - - c.132-108del p.(=) - - - -
?/? - - c.132-101C>T p.(=) - - - -
-/- - - c.132-89C>T p.(=) - - - -
./. - - c.132-89C>T p.(=) - - - -
./. - - c.132-84G>A p.(=) - - - -
./. - - c.132-70T>C p.(=) - - - -
./. - - c.132-67G>A p.(=) - - - -
./. - - c.132-66del p.(=) - - - -
./. - - c.132-58G>A p.(=) - - - -
./. - - c.132-31C>T p.(=) - - - -
./. - - c.132-18A>G p.(=) - - - -
./. - - c.132-2A>C p.? - - - -
./. - - c.134C>A p.(Ser45*) - - - -
./. - - c.137G>A p.(Arg46Gln) - - - -
-/- - 3/21 c.137G>A p.(Arg46Gln) benign(0.005) missense_variant - tolerated(0.06)
./. - - c.155G>A p.(Gly52Glu) - - - -
./. - - c.164G>A p.(Arg55Gln) - - - -
./. - - c.165_174del p.(Pro58Glyfs*23) - - - -
./. - - c.169_170insGCCCT p.(Arg60Leufs*26) - - - -
./. - - c.171del p.(Pro58Leufs*26) - - - -
./. - - c.178C>T p.(Arg60Trp) - - - -
./. - - c.190G>A p.(Ala64Thr) - - - -
-/- - 3/21 c.197G>A p.(Gly66Asp) benign(0.289) missense_variant - tolerated(0.34)
./. - - c.197G>A p.(Gly66Asp) - - - -
./. - - c.207+1G>A p.? - - - -
./. - - c.207+1_207+2insT p.? - - - -
./. - - c.207+2T>C p.? - - - -
./. - - c.208-3C>T p.? - - - -
./. - - c.249G>C p.(=) - - - -
./. - - c.255_256insA p.(Pro88Thrfs*7) - - - -
./. - - c.256del p.(Lys87Asnfs*53) - - - -
-/- - 4/21 c.263C>T p.(Pro88Leu) benign(0.001) missense_variant - tolerated(0.08)
./. - - c.263C>T p.(Pro88Leu) - - - -
./. - - c.273+5G>A p.? - - - -
./. - - c.273+15G>A p.(=) - - - -
./. - - c.273+30_273+31insG p.(=) - - - -
./. - - c.274-8C>G p.(=) - - - -
./. - - c.274-7T>C p.(=) - - - -
./. - - c.274-5C>G p.? - - - -
./. - - c.296G>A p.(Gly99Glu) - - - -
./. - - c.299T>C p.(Met100Thr) - - - -
./. - - c.318_319del p.(Thr107Argfs*19) - - - -
./. - - c.325C>T p.(Gln109*) - - - -
./. - - c.333del p.(Pro112Hisfs*28) - - - -
./. - - c.342del p.(Ser115Profs*25) - - - -
./. - - c.346del p.? - - - -
./. - - c.346+1G>T p.? - - - -
./. - - c.346+2T>G p.? - - - -
./. - - c.346+6G>T p.(=) - - - -
./. - - c.346+24T>C p.(=) - - - -
./. - - c.346+25del p.(=) - - - -
./. - - c.347-39C>T p.(=) - - - -
./. - - c.347-8C>T p.(=) - - - -
./. - - c.347T>C p.(Val116Ala) - - - -
./. - - c.355G>A p.(Glu119Lys) - - - -
./. - - c.364_365del p.(Gln123Valfs*3) - - - -
./. - - c.368_374del p.(Gln123Leufs*15) - - - -
./. - - c.376_377del p.(Lys126Argfs*20) - - - -
./. - - c.377A>G p.(Lys126Arg) - - - -
?/? - - c.388_390del p.(Glu130del) - - - -
./. - - c.394G>A p.(Val132Met) - - - -
./. - - c.399_407del p.(Arg134_Phe136del) - - - -
./. - - c.408C>A p.(Phe136Leu) - - - -
./. - - c.409G>A p.(Glu137Lys) - - - -
./. - - c.411+1G>C p.? - - - -
./. - - c.411+14C>T p.(=) - - - -
./. - - c.411+15G>A p.(=) - - - -
./. - - c.411+16G>C p.(=) - - - -
./. - - c.411+25C>T p.(=) - - - -
./. - - c.412-41C>A p.(=) - - - -
./. - - c.412-23G>A p.(=) - - - -
./. - - c.412-1del p.(=) - - - -
+/+ - - c.412-1del p.(=) - - - -
./. - - c.433A>G p.(Asn145Asp) - - - -
./. - - c.443T>C p.(Leu148Pro) - - - -
./. - - c.453_455del p.(Glu153del) - - - -
./. - - c.454G>A p.(Glu152Lys) - - - -
?/? - - c.454_456del p.(Glu153del) - - - -
./. - - c.462C>G p.(=) - - - -
./. - - c.467G>A p.(Trp156*) - - - -
./. - - c.488_527del p.(Gly166Alafs*61) - - - -
./. - - c.500T>C p.(Leu167Pro) - - - -
./. - - c.502C>T p.(Gln168*) - - - -
./. - - c.508C>T p.(Pro170Ser) - - - -
./. - - c.547-1G>C p.? - - - -
./. - - c.550G>A p.(Ala184Thr) - - - -
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