Full data view for gene HTR2C

Information The variants shown are described using the NM_000868.2 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-80+16882T>C r.(=) p.(=) g.113865221T>C Copied from the Exome Variant Server HTR2C_000001 1/4525 1/3107 0/1418 - - - - - - -
?/? c.-80+16895G>A r.(=) p.(=) g.113865234G>A Copied from the Exome Variant Server HTR2C_000002 143/4525 136/3107 7/1418 - - - - - - -
?/? c.-80+16972C>T N/A N/A g.113865311C>T Copied from the Exome Variant Server HTR2C_000003 1/4525 1/3107 0/1418 - - - - - - -
?/? c.-80+16973G>A N/A N/A g.113865312G>A Copied from the Exome Variant Server HTR2C_000004 10/4525 9/3107 1/1418 - - - - - - -
?/? c.-80+17078G>A r.(=) p.(=) g.113865417G>A Copied from the Exome Variant Server HTR2C_000005 1/4525 1/3107 0/1418 - - - - - - -
?/? c.-80+17086G>A r.(=) p.(=) g.113865425G>A Copied from the Exome Variant Server HTR2C_000006 8/4525 7/3107 1/1418 - - - - - - -
?/? c.-80+25669C>T r.(=) p.(=) g.113874008C>T Copied from the Exome Variant Server HTR2C_000007 1/3600 0/2391 1/1209 - - - - - - -
?/? c.-80+25675G>T r.(=) p.(=) g.113874014G>T Copied from the Exome Variant Server HTR2C_000008 5/3600 3/2391 2/1209 - - - - - - -
?/? c.-80+37712T>C r.(=) p.(=) g.113886051T>C Copied from the Exome Variant Server HTR2C_000009 9/3600 0/2391 9/1209 - - - - - - -
?/? c.-80+38776T>G r.(=) p.(=) g.113887115T>G Copied from the Exome Variant Server HTR2C_000010 7/8123 6/5498 1/2625 - - - - - - -
?/? c.-80+38789G>A r.(=) p.(=) g.113887128G>A Copied from the Exome Variant Server HTR2C_000011 11/8125 0/5498 11/2627 - - - - - - -
?/? c.-80+38800A>G r.(=) p.(=) g.113887139A>G Copied from the Exome Variant Server HTR2C_000012 1/8125 0/5498 1/2627 - - - - - - -
?/? c.-79-11622T>C r.(=) p.(=) g.113949645T>C Copied from the Exome Variant Server HTR2C_000013 1/8125 1/5498 0/2627 - - - - - - -
?/? c.-79-11614C>T r.(=) p.(=) g.113949653C>T Copied from the Exome Variant Server HTR2C_000014 1/8125 0/5498 1/2627 - - - - - - -
?/? c.-79-11579A>G r.(=) p.(=) g.113949688A>G Copied from the Exome Variant Server HTR2C_000016 1/8125 1/5498 0/2627 - - - - - - -
?/? c.-79-11564G>A r.(=) p.(=) g.113949703G>A Copied from the Exome Variant Server HTR2C_000018 2/8125 2/5498 0/2627 - - - - - - -
?/? c.-45C>T r.(=) p.(=) g.113961301C>T Copied from the Exome Variant Server HTR2C_000020 1/10561 1/6727 0/3834 - - - - - - -
?/? c.-44G>A r.(=) p.(=) g.113961302G>A Copied from the Exome Variant Server HTR2C_000023 1/10560 1/6726 0/3834 - - - - - - -
?/? c.-42C>A r.(=) p.(=) g.113961304C>A Copied from the Exome Variant Server HTR2C_000025 1/10561 1/6727 0/3834 - - - - - - -
?/? c.-18C>T r.(=) p.(=) g.113961328C>T Copied from the Exome Variant Server HTR2C_000027 3/10562 0/6728 3/3834 - - - - - - -
?/? c.-12A>G r.(=) p.(=) g.113961334A>G Copied from the Exome Variant Server HTR2C_000029 1/10562 1/6728 0/3834 - - - - - - -
?/? c.-3A>G r.(=) p.(=) g.113961343A>G Copied from the Exome Variant Server HTR2C_000032 1/10562 1/6728 0/3834 - - - - - - -
?/? c.-1C>T r.(=) p.(=) g.113961345C>T Copied from the Exome Variant Server HTR2C_000034 1/10562 1/6728 0/3834 - - - - - - -
?/? c.8A>G r.(?) p.(Asn3Ser) g.113961353A>G Copied from the Exome Variant Server HTR2C_000036 3/10562 0/6728 3/3834 - - - - - - -
?/? c.21G>A r.(=) p.(=) g.113961366G>A Copied from the Exome Variant Server HTR2C_000038 1/10562 1/6728 0/3834 - - - - - - -
?/? c.35+30G>A r.(=) p.(=) g.113961410G>A Copied from the Exome Variant Server HTR2C_000015 2608/10557 1170/6727 1438/3830 - - - - - - -
?/? c.35+32A>G r.(=) p.(=) g.113961412A>G Copied from the Exome Variant Server HTR2C_000017 1/10557 1/6727 0/3830 - - - - - - -
?/? c.35+52G>A r.(=) p.(=) g.113961432G>A Copied from the Exome Variant Server HTR2C_000019 19/6038 0/3621 19/2417 - - - - - - -
?/? c.35+68del r.(=) p.(=) g.113961448del Copied from the Exome Variant Server HTR2C_000022 15/10118 9/6440 6/3678 - - - - - - -
?/? c.35+68dup r.(=) p.(=) g.113961448dup Copied from the Exome Variant Server HTR2C_000021 29/10118 5/6440 24/3678 - - - - - - -
?/? c.36-31C>A r.(=) p.(=) g.113965672C>A Copied from the Exome Variant Server HTR2C_000024 1/10560 1/6725 0/3835 - - - - - - -
?/? c.36-23del r.(=) p.(=) g.113965680del Copied from the Exome Variant Server HTR2C_000028 581/10204 388/6483 193/3721 - - - - - - -
?/? c.36-23dup r.(=) p.(=) g.113965680dup Copied from the Exome Variant Server HTR2C_000026 1113/10204 733/6483 380/3721 - - - - - - -
?/? c.36-23_36-22insTT r.(=) p.(=) g.113965680_113965681insTT Copied from the Exome Variant Server HTR2C_000031 103/10204 26/6483 77/3721 - - - - - - -
?/? c.36-23_36-22insTTT r.(=) p.(=) g.113965680_113965681insTTT Copied from the Exome Variant Server HTR2C_000030 75/10204 44/6483 31/3721 - - - - - - -
?/? c.47T>C r.(?) p.(Ile16Thr) g.113965714T>C Copied from the Exome Variant Server HTR2C_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.68G>C r.(?) p.(Cys23Ser) g.113965735G>C Copied from the Exome Variant Server HTR2C_000035 2485/10563 1179/6728 1306/3835 - - - - - - -
?/? c.73A>G r.(?) p.(Ile25Val) g.113965740A>G Copied from the Exome Variant Server HTR2C_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.89T>C r.(?) p.(Val30Ala) g.113965756T>C Copied from the Exome Variant Server HTR2C_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.124G>C r.(?) p.(Asp42His) g.113965791G>C Copied from the Exome Variant Server HTR2C_000040 8/10563 0/6728 8/3835 - - - - - - -
?/? c.181G>A r.(?) p.(Val61Ile) g.113965848G>A Copied from the Exome Variant Server HTR2C_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.350-24612A>G r.(=) p.(=) g.114057954A>G Copied from the Exome Variant Server HTR2C_000042 1/3600 1/2391 0/1209 - - - - - - -
?/? c.350-24413G>A r.(=) p.(=) g.114058153G>A Copied from the Exome Variant Server HTR2C_000043 1/7516 0/5054 1/2462 - - - - - - -
?/? c.350-24398A>G r.(=) p.(=) g.114058168A>G Copied from the Exome Variant Server HTR2C_000044 5/7265 0/4870 5/2395 - - - - - - -
?/? c.350-43A>G r.(=) p.(=) g.114082523A>G Copied from the Exome Variant Server HTR2C_000045 5/10563 5/6728 0/3835 - - - - - - -
?/? c.350-31G>A r.(=) p.(=) g.114082535G>A Copied from the Exome Variant Server HTR2C_000046 9112/10563 5644/6728 3468/3835 - - - - - - -
?/? c.350-14C>G r.(=) p.(=) g.114082552C>G Copied from the Exome Variant Server HTR2C_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.350-2A>C r.spl? p.? g.114082564A>C Copied from the Exome Variant Server HTR2C_000048 1/10563 0/6728 1/3835 - - - - - - -
?/? c.355G>A r.(?) p.(Val119Ile) g.114082571G>A Copied from the Exome Variant Server HTR2C_000049 2/10563 0/6728 2/3835 - - - - - - -
?/? c.366A>G r.(=) p.(=) g.114082582A>G Copied from the Exome Variant Server HTR2C_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.385G>A r.(?) p.(Val129Ile) g.114082601G>A Copied from the Exome Variant Server HTR2C_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.486T>C r.(=) p.(=) g.114082702T>C Copied from the Exome Variant Server HTR2C_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.510G>A r.(=) p.(=) g.114082726G>A Copied from the Exome Variant Server HTR2C_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.512C>T r.(?) p.(Ala171Val) g.114082728C>T Copied from the Exome Variant Server HTR2C_000054 6/10563 6/6728 0/3835 - - - - - - -
?/? c.550+19C>A r.(=) p.(=) g.114082785C>A Copied from the Exome Variant Server HTR2C_000055 1/10562 1/6727 0/3835 - - - - - - -
?/? c.551-47A>G r.(=) p.(=) g.114141105A>G Copied from the Exome Variant Server HTR2C_000056 4/10563 0/6728 4/3835 - - - - - - -
?/? c.551-12T>G r.(=) p.(=) g.114141140T>G Copied from the Exome Variant Server HTR2C_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.551-10C>A r.(=) p.(=) g.114141142C>A Copied from the Exome Variant Server HTR2C_000058 2/10563 1/6728 1/3835 - - - - - - -
?/? c.564T>C r.(=) p.(=) g.114141165T>C Copied from the Exome Variant Server HTR2C_000059 7/10563 0/6728 7/3835 - - - - - - -
?/? c.642C>T r.(=) p.(=) g.114141243C>T Copied from the Exome Variant Server HTR2C_000060 1/10563 0/6728 1/3835 - - - - - - -
?/? c.651T>C r.(=) p.(=) g.114141252T>C Copied from the Exome Variant Server HTR2C_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.717C>T r.(=) p.(=) g.114141318C>T Copied from the Exome Variant Server HTR2C_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.778A>G r.(?) p.(Ser260Gly) g.114141379A>G Copied from the Exome Variant Server HTR2C_000064 3/10563 0/6728 3/3835 - - - - - - -
?/? c.802A>G r.(?) p.(Lys268Glu) g.114141403A>G Copied from the Exome Variant Server HTR2C_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.833C>G r.(?) p.(Ala278Gly) g.114141434C>G Copied from the Exome Variant Server HTR2C_000068 2/10563 0/6728 2/3835 - - - - - - -
?/? c.868_870del r.(?) p.(Lys292del) g.114141469_114141471del Copied from the Exome Variant Server HTR2C_000070 98/10205 2/6484 96/3721 - - - - - - -
?/? c.1002T>G r.(=) p.(=) g.114141603T>G Copied from the Exome Variant Server HTR2C_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1056G>T r.(=) p.(=) g.114141657G>T Copied from the Exome Variant Server HTR2C_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1119A>C r.(?) p.(Lys373Asn) g.114141720A>C Copied from the Exome Variant Server HTR2C_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1120A>C r.(?) p.(Ile374Leu) g.114141721A>C Copied from the Exome Variant Server HTR2C_000063 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1166T>C r.(?) p.(Val389Ala) g.114141767T>C Copied from the Exome Variant Server HTR2C_000065 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1184T>G r.(?) p.(Val395Gly) g.114141785T>G Copied from the Exome Variant Server HTR2C_000067 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1255A>G r.(?) p.(Thr419Ala) g.114141856A>G Copied from the Exome Variant Server HTR2C_000069 5/10563 4/6728 1/3835 - - - - - - -
?/? c.1272C>T r.(=) p.(=) g.114141873C>T Copied from the Exome Variant Server HTR2C_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1349T>C r.(?) p.(Val450Ala) g.114141950T>C Copied from the Exome Variant Server HTR2C_000073 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*11_*12del r.(=) p.(=) g.114141989_114141990del Copied from the Exome Variant Server HTR2C_000075 2/10205 0/6484 2/3721 - - - - - - -
?/? c.*27G>A r.(=) p.(=) g.114142005G>A Copied from the Exome Variant Server HTR2C_000077 1/10563 1/6728 0/3835 - - - - - - -
Legend