ACADS acyl-CoA dehydrogenase short chain

Canonical transcript: NM_000017

78 unique variant annotations were identified in 64 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-121163690-T-A c.2T>A p.Met1? Missense 1/10 - 1
12-121163719-GG-CT c.31_32delinsCT p.Gly11Leu Missense 1/10 - 1
12-121163722-C-G c.34C>G p.Pro12Ala Missense 1/10 - 1
12-121163723-C-T c.35C>T p.Pro12Leu Missense 1/10 - 1
12-121163726-C-A c.38C>A p.Ala13Asp Missense 1/10 - 1
12-121164782-GG-G c.47-47del - IntronicDeletion - 1/9 1
12-121164847-G-A c.65G>A p.Trp22* Nonsense 2/10 - 2
12-121164848-G-A c.66G>A p.Trp22* Nonsense 2/10 - 2
12-121164852-C-G c.70C>G p.Gln24Glu Missense 2/10 - 1
12-121164859-A-G c.77A>G p.His26Arg Missense 2/10 - 1
12-121164918-C-T c.136C>T p.Arg46Trp Missense 2/10 - 1
12-121164939-T-G c.157T>G p.Leu53Val Missense 2/10 - 1
12-121164946-C-T c.164C>T p.Pro55Leu Missense 2/10 - 9
12-121168083-T-C c.210+3091T>C - IntronicSNV - 2/9 1
12-121168245-T-A c.210+3253T>A - IntronicSNV - 2/9 1
12-121168245-T-C c.210+3253T>C - IntronicSNV - 2/9 1
12-121171803-C-G c.211-2986C>G - IntronicSNV - 2/9 1
12-121171803-C-T c.211-2986C>T - IntronicSNV - 2/9 1
12-121171891-G-A c.211-2898G>A - IntronicSNV - 2/9 1
12-121174823-T-TT c.245dup p.Met82Ilefs*66 Frameshift 3/10 - 1
12-121174828-G-A c.250G>A p.Val84Met Missense 3/10 - 1
12-121174855-C-A c.277C>A p.Leu93Ile Missense 3/10 - 1
12-121174864-C-A c.286C>A p.Leu96Met Missense 3/10 - 1
12-121174888-GGAG-G c.310_312del p.Glu104del InFrameDeletion 3/10 - 3
12-121174897-C-T c.319C>T p.Arg107Cys Missense 3/10 - 7
12-121174898-G-A c.320G>A p.Arg107His Missense 3/10 - 1
12-121174899-T-C c.321T>C p.Arg107Arg Synonymous 3/10 - 1
12-121174900-G-A c.322G>A p.Gly108Ser Missense 3/10 - 2
12-121174901-G-A c.323G>A p.Gly108Asp Missense 3/10 - 1
12-121175185-G-T c.387G>T p.Lys129Asn Missense 4/10 - 1
12-121175215-G-C c.417G>C p.Trp139Cys Missense 4/10 - 1
12-121175524-T-C c.473-116T>C - IntronicSNV - 4/9 12
12-121175560-G-C c.473-80G>C - IntronicSNV - 4/9 1
12-121175560-G-T c.473-80G>T - IntronicSNV - 4/9 1
12-121175669-A-G c.502A>G p.Thr168Ala Missense 5/10 - 1
12-121175678-C-T c.511C>T p.Arg171Trp Missense 5/10 - 15
12-121175679-G-A c.512G>A p.Arg171Gln Missense 5/10 - 1
12-121175696-T-C c.529T>C p.Trp177Arg Missense 5/10 - 2
12-121175697-G-A c.530G>A p.Trp177* Nonsense 5/10 - 1
12-121175698-G-A c.531G>A p.Trp177* Nonsense 5/10 - 1
12-121175791-G-A c.624G>A p.Lys208Lys Synonymous 5/10 - 1
12-121175984-T-C c.625-99T>C - IntronicSNV - 5/9 1
12-121176083-G-A c.625G>A p.Gly209Ser Missense 6/10 - 24
12-121176122-C-A c.664C>A p.Leu222Ile Missense 6/10 - 1
12-121176140-G-A c.682G>A p.Glu228Lys Missense 6/10 - 1
12-121176158-C-T c.700C>T p.Arg234Trp Missense 6/10 - 1
12-121176194-TG-AC c.736_737delinsAC p.Cys246Thr Missense 6/10 - 1
12-121176195-G-A c.737G>A p.Cys246Tyr Missense 6/10 - 2
12-121176223-G-A c.765G>A p.Gly255Gly Synonymous 6/10 - 2
12-121176223-G-C c.765G>C p.Gly255Gly Synonymous 6/10 - 2
12-121176223-G-T c.765G>T p.Gly255Gly Synonymous 6/10 - 2
12-121176354-C-T c.814C>T p.Arg272Cys Missense 7/10 - 1
12-121176355-G-A c.815G>A p.Arg272His Missense 7/10 - 1
12-121176373-A-G c.833A>G p.Gln278Arg Missense 7/10 - 1
12-121176382-G-C c.842G>C p.Gly281Ala Missense 7/10 - 1
12-121176409-C-G c.869C>G p.Ala290Gly Missense 7/10 - 1
12-121176430-G-A c.890G>A p.Arg297His Missense 7/10 - 1
12-121176662-C-T c.973C>T p.Arg325Trp Missense 8/10 - 2
12-121176670-TGAC-T c.981_983del p.Thr328del InFrameDeletion 8/10 - 1
12-121176677-C-T c.988C>T p.Arg330Cys Missense 8/10 - 2
12-121176678-G-A c.989G>A p.Arg330His Missense 8/10 - 1
12-121176679-C-A c.990C>A p.Arg330Arg Synonymous 8/10 - 1
12-121176679-C-T c.990C>T p.Arg330Arg Synonymous 8/10 - 1
12-121176944-A-G c.1031A>G p.Glu344Gly Missense 9/10 - 9
12-121176967-G-A c.1054G>A p.Ala352Thr Missense 9/10 - 5
12-121176968-C-T c.1055C>T p.Ala352Val Missense 9/10 - 1
12-121177107-G-T c.1095G>T p.Gln365His Missense 10/10 - 1
12-121177115-GG-G c.1103del p.Gly368Alafs*6 Frameshift 10/10 - 1
12-121177142-C-T c.1130C>T p.Pro377Leu Missense 10/10 - 3
12-121177150-C-T c.1138C>T p.Arg380Trp Missense 10/10 - 4
12-121177159-C-T c.1147C>T p.Arg383Cys Missense 10/10 - 3
12-121177165-G-A c.1153G>A p.Ala385Thr Missense 10/10 - 1
12-121177168-C-T c.1156C>T p.Arg386Cys Missense 10/10 - 1
12-121177169-G-A c.1157G>A p.Arg386His Missense 10/10 - 1
12-121177272-G-C c.*21G>C - 3-UTRSNV 10/10 - 4
12-121177272-G-T c.*21G>T - 3-UTRSNV 10/10 - 4
12-121177366-G-A c.*115G>A - 3-UTRSNV 10/10 - 2
12-121177778-A-G c.*527A>G - 3-UTRSNV 10/10 - 2