Transcript #00000391

Transcript name transcript variant 2
Gene name ACADVL (acyl-CoA dehydrogenase, very long chain)
Chromosome 17
Transcript - NCBI ID NM_001033859.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001029031.1
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.-2811G>A p.(=) - - - -
./. - - c.-2246A>G p.(=) - - - -
./. - - c.-2245_-2244insAGAAGC p.(=) - - - -
./. - - c.-2231C>T p.(=) - - - -
./. - - c.-2216C>T p.(=) - - - -
./. - - c.-2209G>A p.(=) - - - -
./. - - c.-2189_-2188insCGATGA p.(=) - - - -
./. - - c.-2183_-2179del p.(=) - - - -
./. - - c.-132C>T p.(=) - - - -
./. - - c.-64T>C p.(=) - - - -
./. - - c.-64_-63insGGGCGTGCAGGACGC p.(=) - - - -
./. - - c.-36A>G p.(=) - - - -
./. - - c.3G>A p.? - - - -
./. - - c.14_30del p.(Met6Alafs*38) - - - -
./. - - c.30del p.(Arg12Glyfs*4) - - - -
?/? - 1/19 c.37C>T p.(Gln13*) - stop_gained,NMD_transcript_variant - -
-/- - 1/19 c.49C>T p.(Leu17Phe) unknown(0) missense_variant,NMD_transcript_variant - -
./. - - c.49C>T p.(Leu17Phe) - - - -
./. - - c.54G>A p.(=) - - - -
./. - - c.62+6T>C p.(=) - - - -
./. - - c.62+9G>A p.(=) - - - -
./. - - c.62+10del p.(=) - - - -
./. - - c.62+18G>A p.(=) - - - -
./. - - c.63-31C>T p.(=) - - - -
./. - - c.63-18A>G p.(=) - - - -
./. - - c.63-2A>C p.? - - - -
./. - - c.65C>A p.(Ser22*) - - - -
-/- - 2/6 c.68G>A p.(Arg23Gln) benign(0.014) missense_variant - tolerated(0.33)
./. - - c.68G>A p.(Arg23Gln) - - - -
./. - - c.86G>A p.(Gly29Glu) - - - -
./. - - c.95G>A p.(Arg32Gln) - - - -
./. - - c.96_105del p.(Pro35Glyfs*57) - - - -
./. - - c.100_101insGCCCT p.(Arg37Leufs*60) - - - -
./. - - c.102del p.(Pro35Leufs*60) - - - -
./. - - c.109C>T p.(Arg37Trp) - - - -
./. - - c.121G>A p.(Ala41Thr) - - - -
./. - - c.128G>A p.(Gly43Asp) - - - -
-/- - 2/6 c.128G>A p.(Gly43Asp) unknown(0) missense_variant - tolerated(0.5)
./. - - c.138+1G>A p.? - - - -
./. - - c.138+1_138+2insT p.? - - - -
./. - - c.138+2T>C p.? - - - -
./. - - c.139-143C>T p.(=) - - - -
./. - - c.139-99G>C p.(=) - - - -
./. - - c.139-93_139-92insA p.(=) - - - -
./. - - c.139-92del p.(=) - - - -
-/- - - c.139-85C>T p.(=) - - - -
./. - - c.139-85C>T p.(=) - - - -
./. - - c.139-70G>A p.(=) - - - -
./. - - c.139-60G>A p.(=) - - - -
./. - - c.139-45_139-44insG p.(=) - - - -
./. - - c.139-8C>G p.(=) - - - -
./. - - c.139-7T>C p.(=) - - - -
./. - - c.139-5C>G p.? - - - -
./. - - c.161G>A p.(Gly54Glu) - - - -
./. - - c.164T>C p.(Met55Thr) - - - -
./. - - c.183_184del p.(Thr62Argfs*19) - - - -
./. - - c.190C>T p.(Gln64*) - - - -
./. - - c.198del p.(Pro67Hisfs*28) - - - -
./. - - c.207del p.(Ser70Profs*25) - - - -
./. - - c.211del p.? - - - -
./. - - c.211+1G>T p.? - - - -
./. - - c.211+2T>G p.? - - - -
./. - - c.211+6G>T p.(=) - - - -
./. - - c.211+24T>C p.(=) - - - -
./. - - c.211+25del p.(=) - - - -
./. - - c.212-39C>T p.(=) - - - -
./. - - c.212-8C>T p.(=) - - - -
./. - - c.212T>C p.(Val71Ala) - - - -
./. - - c.220G>A p.(Glu74Lys) - - - -
./. - - c.229_230del p.(Gln78Valfs*3) - - - -
./. - - c.233_239del p.(Gln78Leufs*15) - - - -
./. - - c.241_242del p.(Lys81Argfs*20) - - - -
./. - - c.242A>G p.(Lys81Arg) - - - -
?/? - - c.253_255del p.(Glu85del) - - - -
./. - - c.259G>A p.(Val87Met) - - - -
./. - - c.264_272del p.(Arg89_Phe91del) - - - -
./. - - c.273C>A p.(Phe91Leu) - - - -
./. - - c.274G>A p.(Glu92Lys) - - - -
./. - - c.276+1G>C p.? - - - -
./. - - c.276+14C>T p.(=) - - - -
./. - - c.276+15G>A p.(=) - - - -
./. - - c.276+16G>C p.(=) - - - -
./. - - c.276+25C>T p.(=) - - - -
./. - - c.277-41C>A p.(=) - - - -
./. - - c.277-23G>A p.(=) - - - -
./. - - c.277-1del p.(=) - - - -
+/+ - - c.277-1del p.(=) - - - -
./. - - c.298A>G p.(Asn100Asp) - - - -
./. - - c.308T>C p.(Leu103Pro) - - - -
./. - - c.318_320del p.(Glu108del) - - - -
./. - - c.319G>A p.(Glu107Lys) - - - -
?/? - - c.319_321del p.(Glu108del) - - - -
./. - - c.327C>G p.(=) - - - -
./. - - c.332G>A p.(Trp111*) - - - -
./. - - c.353_392del p.(Gly121Alafs*61) - - - -
./. - - c.365T>C p.(Leu122Pro) - - - -
./. - - c.367C>T p.(Gln123*) - - - -
./. - - c.373C>T p.(Pro125Ser) - - - -
./. - - c.412-1G>C p.? - - - -
./. - - c.415G>A p.(Ala139Thr) - - - -
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