Full data view for gene CCR5

Information The variants shown are described using the NM_000579.3 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.-11-18C>T r.(=) p.(=) g.46414365C>T Copied from the Exome Variant Server CCR5_000005 3/12996 3/8590 0/4406 - - - - - - -
?/? c.-10G>C r.(=) p.(=) g.46414384G>C Copied from the Exome Variant Server CCR5_000007 60/12998 57/8592 3/4406 - - - - - - -
?/? c.50C>A r.(?) p.(Ser17*) g.46414443C>A Copied from the Exome Variant Server CCR5_000009 1/12998 1/8592 0/4406 - - - - - - -
?/? c.52G>A r.(?) p.(Glu18Lys) g.46414445G>A Copied from the Exome Variant Server CCR5_000011 1/12998 1/8592 0/4406 - - - - - - -
?/? c.58T>A r.(?) p.(Cys20Ser) g.46414451T>A Copied from the Exome Variant Server CCR5_000013 3/12998 3/8592 0/4406 - - - - - - -
?/? c.85G>T r.(?) p.(Ala29Ser) g.46414478G>T Copied from the Exome Variant Server CCR5_000001 1/12998 1/8592 0/4406 - - - - - - -
?/? c.92G>A r.(?) p.(Arg31His) g.46414485G>A Copied from the Exome Variant Server CCR5_000002 2/12998 1/8592 1/4406 - - - - - - -
?/? c.94C>T r.(?) p.(Leu32Phe) g.46414487C>T Copied from the Exome Variant Server CCR5_000003 1/12998 1/8592 0/4406 - - - - - - -
?/? c.105G>A r.(=) p.(=) g.46414498G>A Copied from the Exome Variant Server CCR5_000004 2/12998 1/8592 1/4406 - - - - - - -
?/? c.136G>A r.(?) p.(Val46Met) g.46414529G>A Copied from the Exome Variant Server CCR5_000006 4/12998 0/8592 4/4406 - - - - - - -
?/? c.164T>A r.(?) p.(Leu55Gln) g.46414557T>A Copied from the Exome Variant Server CCR5_000008 229/12998 202/8592 27/4406 - - - - - - -
?/? c.165G>T r.(=) p.(=) g.46414558G>T Copied from the Exome Variant Server CCR5_000010 1/12998 1/8592 0/4406 - - - - - - -
?/? c.180G>T r.(?) p.(Arg60Ser) g.46414573G>T Copied from the Exome Variant Server CCR5_000012 14/12998 13/8592 1/4406 - - - - - - -
?/? c.187A>T r.(?) p.(Ser63Cys) g.46414580A>T Copied from the Exome Variant Server CCR5_000014 9/12998 7/8592 2/4406 - - - - - - -
?/? c.216G>A r.(=) p.(=) g.46414609G>A Copied from the Exome Variant Server CCR5_000015 1/12998 1/8592 0/4406 - - - - - - -
?/? c.218C>T r.(?) p.(Ala73Val) g.46414611C>T Copied from the Exome Variant Server CCR5_000016 17/12998 14/8592 3/4406 - - - - - - -
?/? c.225T>C r.(=) p.(=) g.46414618T>C Copied from the Exome Variant Server CCR5_000017 33/12998 0/8592 33/4406 - - - - - - -
?/? c.277C>G r.(?) p.(Gln93Glu) g.46414670C>G Copied from the Exome Variant Server CCR5_000018 1/12998 0/8592 1/4406 - - - - - - -
?/? c.283G>A r.(?) p.(Asp95Asn) g.46414676G>A Copied from the Exome Variant Server CCR5_000019 1/12998 1/8592 0/4406 - - - - - - -
?/? c.303T>A r.(?) p.(Cys101*) g.46414696T>A Copied from the Exome Variant Server CCR5_000020 11/12998 8/8592 3/4406 - - - - - - -
?/? c.319C>T r.(?) p.(Leu107Phe) g.46414712C>T Copied from the Exome Variant Server CCR5_000021 11/12998 0/8592 11/4406 - - - - - - -
?/? c.358A>G r.(?) p.(Ile120Val) g.46414751A>G Copied from the Exome Variant Server CCR5_000022 2/12998 0/8592 2/4406 - - - - - - -
?/? c.362T>G r.(?) p.(Leu121Arg) g.46414755T>G Copied from the Exome Variant Server CCR5_000023 4/12998 4/8592 0/4406 - - - - - - -
?/? c.372C>T r.(=) p.(=) g.46414765C>T Copied from the Exome Variant Server CCR5_000024 1/12998 1/8592 0/4406 - - - - - - -
?/? c.373G>A r.(?) p.(Asp125Asn) g.46414766G>A Copied from the Exome Variant Server CCR5_000025 1/12998 1/8592 0/4406 - - - - - - -
?/? c.382C>A r.(?) p.(Leu128Met) g.46414775C>A Copied from the Exome Variant Server CCR5_000026 1/12998 1/8592 0/4406 - - - - - - -
?/? c.391G>T r.(?) p.(Val131Phe) g.46414784G>T Copied from the Exome Variant Server CCR5_000027 1/12998 1/8592 0/4406 - - - - - - -
?/? c.422C>T r.(?) p.(Thr141Met) g.46414815C>T Copied from the Exome Variant Server CCR5_000028 1/12998 1/8592 0/4406 - - - - - - -
?/? c.477G>A r.(=) p.(=) g.46414870G>A Copied from the Exome Variant Server CCR5_000029 1/12998 0/8592 1/4406 - - - - - - -
?/? c.492C>G r.(?) p.(Ile164Met) g.46414885C>G Copied from the Exome Variant Server CCR5_000030 1/12998 1/8592 0/4406 - - - - - - -
?/? c.494T>C r.(?) p.(Ile165Thr) g.46414887T>C Copied from the Exome Variant Server CCR5_000031 1/12998 1/8592 0/4406 - - - - - - -
?/? c.506C>A r.(?) p.(Ser169Tyr) g.46414899C>A Copied from the Exome Variant Server CCR5_000032 1/12998 0/8592 1/4406 - - - - - - -
?/? c.515A>C r.(?) p.(Glu172Ala) g.46414908A>C Copied from the Exome Variant Server CCR5_000033 2/12998 2/8592 0/4406 - - - - - - -
?/? c.531C>T r.(=) p.(=) g.46414924C>T Copied from the Exome Variant Server CCR5_000034 1/12996 0/8590 1/4406 - - - - - - -
?/? c.551_582del r.(?) p.(Ser185Ilefs*32) g.46414944_46414975del Copied from the Exome Variant Server CCR5_000035 755/12494 697/8228 58/4266 - - - - - - -
?/? c.560A>G r.(?) p.(Tyr187Cys) g.46414953A>G Copied from the Exome Variant Server CCR5_000036 1/12934 1/8528 0/4406 - - - - - - -
?/? c.579C>G r.(?) p.(Phe193Leu) g.46414972C>G Copied from the Exome Variant Server CCR5_000037 1/12978 1/8572 0/4406 - - - - - - -
?/? c.582G>T r.(?) p.(Gln194His) g.46414975G>T Copied from the Exome Variant Server CCR5_000038 384/12980 337/8574 47/4406 - - - - - - -
?/? c.607_608insAGA r.(?) p.(Leu203delinsGlnMet) g.46415000_46415001insAGA Copied from the Exome Variant Server CCR5_000039 1/12508 0/8242 1/4266 - - - - - - -
?/? c.618G>A r.(=) p.(=) g.46415011G>A Copied from the Exome Variant Server CCR5_000040 1/12996 1/8590 0/4406 - - - - - - -
?/? c.645G>A r.(=) p.(=) g.46415038G>A Copied from the Exome Variant Server CCR5_000041 2/12998 1/8592 1/4406 - - - - - - -
?/? c.647G>T r.(?) p.(Gly216Val) g.46415040G>T Copied from the Exome Variant Server CCR5_000042 2/12998 2/8592 0/4406 - - - - - - -
?/? c.659C>T r.(?) p.(Thr220Ile) g.46415052C>T Copied from the Exome Variant Server CCR5_000043 1/12998 0/8592 1/4406 - - - - - - -
?/? c.668G>A r.(?) p.(Arg223Gln) g.46415061G>A Copied from the Exome Variant Server CCR5_000044 15/12998 14/8592 1/4406 - - - - - - -
?/? c.673C>T r.(?) p.(Arg225*) g.46415066C>T Copied from the Exome Variant Server CCR5_000045 7/12998 0/8592 7/4406 - - - - - - -
?/? c.678T>C r.(=) p.(=) g.46415071T>C Copied from the Exome Variant Server CCR5_000046 1/12998 1/8592 0/4406 - - - - - - -
?/? c.680_682del r.(?) p.(Lys229del) g.46415073_46415075del Copied from the Exome Variant Server CCR5_000047 2/12506 2/8240 0/4266 - - - - - - -
?/? c.705G>T r.(?) p.(Arg235Ser) g.46415098G>T Copied from the Exome Variant Server CCR5_000048 2/12998 2/8592 0/4406 - - - - - - -
?/? c.719T>A r.(?) p.(Ile240Asn) g.46415112T>A Copied from the Exome Variant Server CCR5_000049 1/12998 1/8592 0/4406 - - - - - - -
?/? c.737T>C r.(?) p.(Leu246Pro) g.46415130T>C Copied from the Exome Variant Server CCR5_000050 1/12998 1/8592 0/4406 - - - - - - -
?/? c.741C>T r.(=) p.(=) g.46415134C>T Copied from the Exome Variant Server CCR5_000051 2/12998 2/8592 0/4406 - - - - - - -
?/? c.759T>C r.(=) p.(=) g.46415152T>C Copied from the Exome Variant Server CCR5_000052 1/12998 1/8592 0/4406 - - - - - - -
?/? c.770T>A r.(?) p.(Leu257Gln) g.46415163T>A Copied from the Exome Variant Server CCR5_000053 1/12998 0/8592 1/4406 - - - - - - -
?/? c.806G>A r.(?) p.(Cys269Tyr) g.46415199G>A Copied from the Exome Variant Server CCR5_000054 1/12998 1/8592 0/4406 - - - - - - -
?/? c.839A>C r.(?) p.(Gln280Pro) g.46415232A>C Copied from the Exome Variant Server CCR5_000055 1/12998 1/8592 0/4406 - - - - - - -
?/? c.862A>G r.(?) p.(Thr288Ala) g.46415255A>G Copied from the Exome Variant Server CCR5_000056 2/12998 2/8592 0/4406 - - - - - - -
?/? c.864G>A r.(=) p.(=) g.46415257G>A Copied from the Exome Variant Server CCR5_000057 2/12998 0/8592 2/4406 - - - - - - -
?/? c.867C>G r.(?) p.(His289Gln) g.46415260C>G Copied from the Exome Variant Server CCR5_000058 1/12998 1/8592 0/4406 - - - - - - -
?/? c.874A>G r.(?) p.(Ile292Val) g.46415267A>G Copied from the Exome Variant Server CCR5_000059 1/12998 0/8592 1/4406 - - - - - - -
?/? c.882C>T r.(=) p.(=) g.46415275C>T Copied from the Exome Variant Server CCR5_000060 1/12998 0/8592 1/4406 - - - - - - -
?/? c.926_927insA r.(?) p.(Val310Serfs*52) g.46415319_46415320insA Copied from the Exome Variant Server CCR5_000061 1/12506 0/8240 1/4266 - - - - - - -
?/? c.945C>T r.(=) p.(=) g.46415338C>T Copied from the Exome Variant Server CCR5_000062 1/12998 0/8592 1/4406 - - - - - - -
?/? c.955C>T r.(?) p.(Arg319Cys) g.46415348C>T Copied from the Exome Variant Server CCR5_000063 1/12998 0/8592 1/4406 - - - - - - -
?/? c.956G>A r.(?) p.(Arg319His) g.46415349G>A Copied from the Exome Variant Server CCR5_000064 1/12998 0/8592 1/4406 - - - - - - -
?/? c.984G>C r.(?) p.(Gln328His) g.46415377G>C Copied from the Exome Variant Server CCR5_000065 1/12998 1/8592 0/4406 - - - - - - -
?/? c.996C>T r.(=) p.(=) g.46415389C>T Copied from the Exome Variant Server CCR5_000066 5/12998 0/8592 5/4406 - - - - - - -
?/? c.1000C>T r.(?) p.(Arg334*) g.46415393C>T Copied from the Exome Variant Server CCR5_000067 1/12998 1/8592 0/4406 - - - - - - -
?/? c.1004C>T r.(?) p.(Ala335Val) g.46415397C>T Copied from the Exome Variant Server CCR5_000068 155/12998 0/8592 155/4406 - - - - - - -
?/? c.1016A>T r.(?) p.(Tyr339Phe) g.46415409A>T Copied from the Exome Variant Server CCR5_000069 44/12998 1/8592 43/4406 - - - - - - -
?/? c.1031G>T r.(?) p.(Gly344Val) g.46415424G>T Copied from the Exome Variant Server CCR5_000070 1/12998 1/8592 0/4406 - - - - - - -
?/? c.*3C>T r.(=) p.(=) g.46415455C>T Copied from the Exome Variant Server CCR5_000071 2/12994 1/8588 1/4406 - - - - - - -
Legend