Transcript #00000390

Transcript name transcript variant 1
Gene name ACADVL (acyl-CoA dehydrogenase, very long chain)
Chromosome 17
Transcript - NCBI ID NM_000018.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000009.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

366 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*47) - - - -
./. - - c.30del p.(Arg12Glyfs*4) - - - -
?/? - 1/19 c.37C>T p.? - stop_gained,NMD_transcript_variant - -
./. - - c.49C>T p.(Leu17Phe) - - - -
-/- - 1/19 c.49C>T p.? unknown(0) missense_variant,NMD_transcript_variant - -
./. - - 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*) - - - -
./. - - c.68G>A p.(Arg23Gln) - - - -
-/- - 2/6 c.68G>A p.? benign(0.014) missense_variant - tolerated(0.33)
./. - - c.86G>A p.(Gly29Glu) - - - -
./. - - c.95G>A p.(Arg32Gln) - - - -
./. - - c.96_105del p.(Pro35Glyfs*23) - - - -
./. - - c.100_101insGCCCT p.(Arg37Leufs*26) - - - -
./. - - c.102del p.(Pro35Leufs*26) - - - -
./. - - c.109C>T p.(Arg37Trp) - - - -
./. - - c.121G>A p.(Ala41Thr) - - - -
-/- - 2/6 c.128G>A p.? unknown(0) missense_variant - tolerated(0.5)
./. - - c.128G>A p.(Gly43Asp) - - - -
./. - - c.138+1G>A p.? - - - -
./. - - c.138+1_138+2insT p.? - - - -
./. - - c.138+2T>C p.? - - - -
./. - - c.139-3C>T p.? - - - -
./. - - c.180G>C p.(=) - - - -
./. - - c.186_187insA p.(Pro65Thrfs*7) - - - -
./. - - c.187del p.(Lys64Asnfs*53) - - - -
./. - - c.194C>T p.(Pro65Leu) - - - -
-/- - 3/6 c.194C>T p.? benign(0.023) missense_variant - tolerated(0.11)
./. - - c.204+5G>A p.? - - - -
./. - - c.204+15G>A p.(=) - - - -
./. - - c.204+30_204+31insG p.(=) - - - -
./. - - c.205-8C>G p.(=) - - - -
./. - - c.205-7T>C p.(=) - - - -
./. - - c.205-5C>G p.? - - - -
./. - - c.227G>A p.(Gly76Glu) - - - -
./. - - c.230T>C p.(Met77Thr) - - - -
./. - - c.249_250del p.(Thr84Argfs*19) - - - -
./. - - c.256C>T p.(Gln86*) - - - -
./. - - c.264del p.(Pro89Hisfs*28) - - - -
./. - - c.273del p.? - - - -
./. - - c.277del p.? - - - -
./. - - c.277+1G>T p.? - - - -
./. - - c.277+2T>G p.? - - - -
./. - - c.277+6G>T p.(=) - - - -
./. - - c.277+24T>C p.(=) - - - -
./. - - c.277+25del p.(=) - - - -
./. - - c.278-39C>T p.(=) - - - -
./. - - c.278-8C>T p.(=) - - - -
./. - - c.278T>C p.(Val93Ala) - - - -
./. - - c.286G>A p.(Glu96Lys) - - - -
./. - - c.295_296del p.(Gln100Valfs*3) - - - -
./. - - c.299_305del p.(Gln100Leufs*15) - - - -
./. - - c.307_308del p.(Lys103Argfs*20) - - - -
./. - - c.308A>G p.(Lys103Arg) - - - -
?/? - - c.319_321del p.? - - - -
./. - - c.325G>A p.(Val109Met) - - - -
./. - - c.330_338del p.(Arg111_Phe113del) - - - -
./. - - c.339C>A p.(Phe113Leu) - - - -
./. - - c.340G>A p.(Glu114Lys) - - - -
./. - - c.342+1G>C p.? - - - -
./. - - c.342+14C>T p.(=) - - - -
./. - - c.342+15G>A p.(=) - - - -
./. - - c.342+16G>C p.(=) - - - -
./. - - c.342+25C>T p.(=) - - - -
./. - - c.343-41C>A p.(=) - - - -
./. - - c.343-23G>A p.(=) - - - -
+/+ - - c.343-1del p.? - - - -
./. - - c.343-1del p.(=) - - - -
./. - - c.364A>G p.(Asn122Asp) - - - -
./. - - c.374T>C p.(Leu125Pro) - - - -
./. - - c.384_386del p.(Glu130del) - - - -
./. - - c.385G>A p.(Glu129Lys) - - - -
?/? - - c.385_387del p.? - - - -
./. - - c.393C>G p.(=) - - - -
./. - - c.398G>A p.(Trp133*) - - - -
./. - - c.419_458del p.(Gly143Alafs*61) - - - -
./. - - c.431T>C p.(Leu144Pro) - - - -
./. - - c.433C>T p.(Gln145*) - - - -
./. - - c.439C>T p.(Pro147Ser) - - - -
./. - - c.478-1G>C p.? - - - -
./. - - c.481G>A p.(Ala161Thr) - - - -
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