Transcript #00000389

Transcript name transcript variant 4
Gene name ACADVL (acyl-CoA dehydrogenase, very long chain)
Chromosome 17
Transcript - NCBI ID NM_001270448.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001257377.1
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.-3114G>A p.(=) - - - -
./. - - c.-2549A>G p.(=) - - - -
./. - - c.-2548_-2547insAGAAGC p.(=) - - - -
./. - - c.-2534C>T p.(=) - - - -
./. - - c.-2519C>T p.(=) - - - -
./. - - c.-2512G>A p.(=) - - - -
./. - - c.-2492_-2491insCGATGA p.(=) - - - -
./. - - c.-2486_-2482del p.(=) - - - -
./. - - c.-435C>T p.(=) - - - -
./. - - c.-367T>C p.(=) - - - -
./. - - c.-367_-366insGGGCGTGCAGGACGC p.(=) - - - -
./. - - c.-339A>G p.(=) - - - -
./. - - c.-301G>A p.(=) - - - -
./. - - c.-290_-274del p.(=) - - - -
./. - - c.-274del p.(=) - - - -
?/? - - c.-267C>T p.(=) - - - -
-/- - - c.-255C>T p.(=) - - - -
./. - - c.-255C>T p.(=) - - - -
./. - - c.-250G>A p.(=) - - - -
./. - - c.-236T>C p.(=) - - - -
./. - - c.-233G>A p.(=) - - - -
./. - - c.-232del p.(=) - - - -
./. - - c.-224G>A p.(=) - - - -
./. - - c.-197C>T p.(=) - - - -
./. - - c.-184A>G p.(=) - - - -
./. - - c.-168A>C p.(=) - - - -
./. - - c.-164C>A p.(=) - - - -
-/- - - c.-161G>A p.(=) - - - -
./. - - c.-161G>A p.(=) - - - -
./. - - c.-143G>A p.(=) - - - -
./. - - c.-134G>A p.(=) - - - -
./. - - c.-133_-124del p.(=) - - - -
./. - - c.-129_-128insGCCCT p.(=) - - - -
./. - - c.-127del p.(=) - - - -
./. - - c.-120C>T p.(=) - - - -
./. - - c.-108G>A p.(=) - - - -
./. - - c.-101G>A p.(=) - - - -
-/- - - c.-101G>A p.(=) - - - -
./. - - c.-91+1G>A p.? - - - -
./. - - c.-91+1_-91+2insT p.? - - - -
./. - - c.-91+2T>C p.? - - - -
./. - - c.-90-3C>T p.? - - - -
./. - - c.-49G>C p.(=) - - - -
./. - - c.-43_-42insA p.(=) - - - -
./. - - c.-42del p.(=) - - - -
-/- - - c.-35C>T p.(=) - - - -
./. - - c.-35C>T p.(=) - - - -
./. - - c.-25+5G>A p.? - - - -
./. - - c.-25+15G>A p.(=) - - - -
./. - - c.-25+30_-25+31insG p.(=) - - - -
./. - - c.-24-8C>G p.(=) - - - -
./. - - c.-24-7T>C p.(=) - - - -
./. - - c.-24-5C>G p.? - - - -
./. - - c.-2G>A p.(=) - - - -
./. - - c.2T>C p.? - - - -
./. - - c.21_22del p.(Thr8Argfs*19) - - - -
./. - - c.28C>T p.(Gln10*) - - - -
./. - - c.36del p.(Pro13Hisfs*28) - - - -
./. - - c.45del p.(Ser16Profs*25) - - - -
./. - - c.49del p.? - - - -
./. - - c.49+1G>T p.? - - - -
./. - - c.49+2T>G p.? - - - -
./. - - c.49+6G>T p.(=) - - - -
./. - - c.49+24T>C p.(=) - - - -
./. - - c.49+25del p.(=) - - - -
./. - - c.50-39C>T p.(=) - - - -
./. - - c.50-8C>T p.(=) - - - -
./. - - c.50T>C p.(Val17Ala) - - - -
./. - - c.58G>A p.(Glu20Lys) - - - -
./. - - c.67_68del p.(Gln24Valfs*3) - - - -
./. - - c.71_77del p.(Gln24Leufs*15) - - - -
./. - - c.79_80del p.(Lys27Argfs*20) - - - -
./. - - c.80A>G p.(Lys27Arg) - - - -
?/? - - c.91_93del p.(Glu31del) - - - -
./. - - c.97G>A p.(Val33Met) - - - -
./. - - c.102_110del p.(Arg35_Phe37del) - - - -
./. - - c.111C>A p.(Phe37Leu) - - - -
./. - - c.112G>A p.(Glu38Lys) - - - -
./. - - c.114+1G>C p.? - - - -
./. - - c.114+14C>T p.(=) - - - -
./. - - c.114+15G>A p.(=) - - - -
./. - - c.114+16G>C p.(=) - - - -
./. - - c.114+25C>T p.(=) - - - -
./. - - c.115-41C>A p.(=) - - - -
./. - - c.115-23G>A p.(=) - - - -
./. - - c.115-1del p.(=) - - - -
+/+ - - c.115-1del p.(=) - - - -
./. - - c.136A>G p.(Asn46Asp) - - - -
./. - - c.146T>C p.(Leu49Pro) - - - -
./. - - c.156_158del p.(Glu54del) - - - -
./. - - c.157G>A p.(Glu53Lys) - - - -
?/? - - c.157_159del p.(Glu54del) - - - -
./. - - c.165C>G p.(=) - - - -
./. - - c.170G>A p.(Trp57*) - - - -
./. - - c.191_230del p.(Gly67Alafs*61) - - - -
./. - - c.203T>C p.(Leu68Pro) - - - -
./. - - c.205C>T p.(Gln69*) - - - -
./. - - c.211C>T p.(Pro71Ser) - - - -
./. - - c.250-1G>C p.? - - - -
./. - - c.253G>A p.(Ala85Thr) - - - -
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