KCTD7 potassium channel tetramerization domain containing 7

Canonical transcript: NM_153033

67 unique variant annotations were identified in 40 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-66094008-C-T c.-44C>T - 5-UTRSNV 1/4 - 1
7-66094142-G-A c.91G>A p.Ala31Thr Missense 1/4 - 1
7-66096028-G-A c.144+1833G>A - IntronicSNV - 1/3 10
7-66098307-A-G c.190A>G p.Thr64Ala Missense 2/4 - 3
7-66098309-A-G c.192A>G p.Thr64Thr Synonymous 2/4 - 1
7-66098325-C-T c.208C>T p.Arg70Trp Missense 2/4 - 2
7-66098326-G-A c.209G>A p.Arg70Gln Missense 2/4 - 1
7-66098367-C-T c.250C>T p.Arg84Trp Missense 2/4 - 3
7-66098368-G-A c.251G>A p.Arg84Gln Missense 2/4 - 2
7-66098373-T-C c.256T>C p.Tyr86His Missense 2/4 - 2
7-66098373-T-G c.256T>G p.Tyr86Asp Missense 2/4 - 1
7-66098397-C-T c.280C>T p.Arg94Trp Missense 2/4 - 7
7-66098412-C-A c.295C>A p.Arg99Arg Synonymous 2/4 - 1
7-66098412-C-T c.295C>T p.Arg99* Nonsense 2/4 - 5
7-66098431-G-A c.314G>A p.Gly105Glu Missense 2/4 - 1
7-66098482-G-A c.314+51G>A - IntronicSNV - 2/3 4
7-66098482-G-C c.314+51G>C - IntronicSNV - 2/3 4
7-66098482-G-T c.314+51G>T - IntronicSNV - 2/3 4
7-66103247-C-A c.322C>A p.Leu108Met Missense 3/4 - 5
7-66103259-C-T c.334C>T p.Arg112Cys Missense 3/4 - 2
7-66103260-G-A c.335G>A p.Arg112His Missense 3/4 - 1
7-66103262-T-C c.337T>C p.Ser113Pro Missense 3/4 - 1
7-66103266-G-A c.341G>A p.Gly114Glu Missense 3/4 - 1
7-66103267-G-A c.342G>A p.Gly114Gly Synonymous 3/4 - 1
7-66103268-G-T c.343G>T p.Asp115Tyr Missense 3/4 - 3
7-66103347-T-C c.422T>C p.Leu141Pro Missense 3/4 - 1
7-66103381-G-A c.456G>A p.Val152Val Synonymous 3/4 - 2
7-66103382-C-G c.457C>G p.Arg153Gly Missense 3/4 - 1
7-66103383-G-A c.458G>A p.Arg153His Missense 3/4 - 1
7-66103436-AGGA-AGGAAGGA c.493+18_493+21dup - IntronicInsertion - 3/3 1
7-66103694-G-C c.494-149G>C - IntronicSNV - 3/3 1
7-66103855-G-A c.506G>A p.Arg169Gln Missense 4/4 - 1
7-66103879-G-A c.530G>A p.Arg177His Missense 4/4 - 1
7-66103882-C-T c.533C>T p.Ala178Val Missense 4/4 - 1
7-66103883-G-A c.534G>A p.Ala178Ala Synonymous 4/4 - 1
7-66103885-GTCCAGCGG-G c.536_543del p.Val179Glufs*22 Frameshift 4/4 - 1
7-66103890-C-T c.541C>T p.Arg181Trp Missense 4/4 - 1
7-66103891-G-A c.542G>A p.Arg181Gln Missense 4/4 - 1
7-66103899-C-T c.550C>T p.Arg184Cys Missense 4/4 - 4
7-66103900-G-A c.551G>A p.Arg184His Missense 4/4 - 1
7-66103943-CC-C c.594del p.Ile199Serfs*74 Frameshift 4/4 - 2
7-66103963-C-T c.614C>T p.Pro205Leu Missense 4/4 - 1
7-66103980-C-T c.631C>T p.Arg211* Nonsense 4/4 - 2
7-66103981-G-A c.632G>A p.Arg211Gln Missense 4/4 - 1
7-66103981-G-C c.632G>C p.Arg211Pro Missense 4/4 - 1
7-66104031-G-T c.682G>T p.Val228Leu Missense 4/4 - 1
7-66104034-G-T c.685G>T p.Asp229Tyr Missense 4/4 - 2
7-66104035-A-G c.686A>G p.Asp229Gly Missense 4/4 - 1
7-66104036-T-C c.687T>C p.Asp229Asp Synonymous 4/4 - 1
7-66104045-TT-T c.696del p.Phe232Leufs*41 Frameshift 4/4 - 1
7-66104053-G-C c.704G>C p.Trp235Ser Missense 4/4 - 1
7-66104089-G-A c.740G>A p.Cys247Tyr Missense 4/4 - 1
7-66104107-C-T c.758C>T p.Ser253Leu Missense 4/4 - 1
7-66104125-T-A c.776T>A p.Val259Glu Missense 4/4 - 1
7-66104142-G-A c.793G>A p.Gly265Arg Missense 4/4 - 1
7-66104161-T-A c.812T>A p.Leu271His Missense 4/4 - 2
7-66104163-G-A c.814G>A p.Val272Met Missense 4/4 - 1
7-66104167-A-T c.818A>T p.Asn273Ile Missense 4/4 - 3
7-66104176-A-G c.827A>G p.Tyr276Cys Missense 4/4 - 3
7-66104210-CATG-C c.861_863del p.Trp288del InFrameDeletion 4/4 - 1
7-66104212-G-A c.863G>A p.Trp288* Nonsense 4/4 - 1
7-66105099-T-A c.*880T>A - 3-UTRSNV 4/4 - 1
7-66105099-T-C c.*880T>C - 3-UTRSNV 4/4 - 1
7-66105198-C-A c.*979C>A - 3-UTRSNV 4/4 - 1
7-66106875-A-G c.*2656A>G - 3-UTRSNV 4/4 - 1
7-66107252-T-C c.*3033T>C - 3-UTRSNV 4/4 - 1
7-66107971-C-G c.*3752C>G - 3-UTRSNV 4/4 - 1