Unique variants in gene RB1

Information The variants shown are described using the NM_000321.2 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.30C>T r.(=) p.(=) g.48878078C>T - RB1_000013 - - - - Despoina Kalfakakou
./. 2 - c.42C>T r.(=) p.(=) g.48878090C>T - RB1_000069 - - - - Despoina Kalfakakou
./. 4 - c.59C>T r.(?) p.(Pro20Leu) g.48878107C>T - RB1_000057 - - - - Despoina Kalfakakou
./. 1 - c.83C>T r.(?) p.(Pro28Leu) g.48878131C>T - RB1_000014 - - - - Despoina Kalfakakou
./. 1 - c.94G>A r.(?) p.(Asp32Asn) g.48878142G>A - RB1_000075 - - - - Despoina Kalfakakou
./. 4 - c.106G>C r.(?) p.(Asp36His) g.48878154G>C - RB1_000049 - - - - Despoina Kalfakakou
./. 2 - c.113G>A r.(?) p.(Gly38Asp) g.48878161G>A - RB1_000025 - - - - Despoina Kalfakakou
./. 1 - c.137+30G>A r.(=) p.(=) g.48878215G>A - RB1_000064 - - - - Despoina Kalfakakou
./. 1 - c.224G>T r.(?) p.(Trp75Leu) g.48881502G>T - RB1_000076 - - - - Despoina Kalfakakou
./. 2 - c.264+39T>G r.(=) p.(=) g.48881581T>G - RB1_000015 - - - - Despoina Kalfakakou
./. 1 - c.265-37T>C r.(=) p.(=) g.48916698T>C - RB1_000045 - - - - Despoina Kalfakakou
./. 1 - c.304T>C r.(?) p.(Cys102Arg) g.48916774T>C - RB1_000044 - - - - Despoina Kalfakakou
./. 1 - c.331G>A r.(?) p.(Asp111Asn) g.48916801G>A - RB1_000035 - - - - Despoina Kalfakakou
./. 1 - c.367A>G r.(?) p.(Asn123Asp) g.48916837A>G - RB1_000089 - - - - Despoina Kalfakakou
./. 1 - c.380+10C>G r.(=) p.(=) g.48916860C>G - RB1_000088 - - - - Despoina Kalfakakou
./. 1 - c.380+33C>A r.(=) p.(=) g.48916883C>A - RB1_000051 - - - - Despoina Kalfakakou
./. 35 - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - Despoina Kalfakakou
./. 1 - c.380+46G>A r.(=) p.(=) g.48916896G>A - RB1_000031 - - - - Despoina Kalfakakou
./. 1 - c.462G>A r.(=) p.(=) g.48919297G>A - RB1_000073 - - - - Despoina Kalfakakou
./. 1 - c.501-45del r.(=) p.(=) g.48921916del - RB1_000065 - - - - Despoina Kalfakakou
./. 2 - c.540-31_540-30insT r.(=) p.(=) g.48923061_48923062insT - RB1_000026 - - - - Despoina Kalfakakou
./. 1 - c.540-23T>C r.(=) p.(=) g.48923069T>C - RB1_000042 - - - - Despoina Kalfakakou
./. 1 - c.541A>G r.(?) p.(Ile181Val) g.48923093A>G - RB1_000027 - - - - Despoina Kalfakakou
./. 1 - c.689C>T r.(?) p.(Ser230Leu) g.48934234C>T - RB1_000074 - - - - Despoina Kalfakakou
./. 2 - c.718+26T>C r.(=) p.(=) g.48934289T>C - RB1_000028 rs3092867 - - - Despoina Kalfakakou
./. 1 - c.719-45A>G r.(=) p.(=) g.48936906A>G - RB1_000043 - - - - Despoina Kalfakakou
./. 4 - c.862-15C>A r.(=) p.(=) g.48939015C>A - RB1_000029 - - - - Despoina Kalfakakou
./. 2 - c.897T>A r.(?) p.(Phe299Leu) g.48939065T>A - RB1_000048 - - - - Despoina Kalfakakou
./. 2 - c.920C>T r.(?) p.(Thr307Ile) g.48939088C>T - RB1_000086 rs79585013 - - - Despoina Kalfakakou
./. 2 - c.929G>A r.(?) p.(Gly310Glu) g.48939097G>A - RB1_000009 - - - - Despoina Kalfakakou
./. 2 - c.939+37T>C r.(=) p.(=) g.48939144T>C - RB1_000030 - - - - Despoina Kalfakakou
./. 1 - c.958C>T r.(?) p.(Arg320*) g.48941648C>T - RB1_000066 - - - - Despoina Kalfakakou
./. 1 - c.1095G>A r.(=) p.(=) g.48942708G>A - RB1_000090 - - - - Despoina Kalfakakou
./. 1 - c.1127+20T>C r.(=) p.(=) g.48942760T>C - RB1_000036 - - - - Despoina Kalfakakou
./. 2 - c.1128-38C>T r.(=) p.(=) g.48947503C>T - RB1_000016 - - - - Despoina Kalfakakou
./. 2 - c.1140C>T r.(=) p.(=) g.48947553C>T - RB1_000062 - - - - Despoina Kalfakakou
./. 17 - c.1333-29C>T r.(=) p.(=) g.48953701C>T - RB1_000010 - - - - Despoina Kalfakakou
./. 1 - c.1333-15_1333-12del r.spl? p.? g.48953715_48953718del - RB1_000011 - - - - Despoina Kalfakakou
./. 1 - c.1389+40G>A r.(=) p.(=) g.48953826G>A - RB1_000067 - - - - Despoina Kalfakakou
./. 6 - c.1390-44C>A r.(=) p.(=) g.48954145C>A - RB1_000017 - - - - Despoina Kalfakakou
./. 36 - c.1390-36C>A r.(=) p.(=) g.48954153C>A - RB1_000012 - - - - Despoina Kalfakakou
./. 8 - c.1390-33C>A r.(=) p.(=) g.48954156C>A - RB1_000018 - - - - Despoina Kalfakakou
./. 8 - c.1390-30C>T r.(=) p.(=) g.48954159C>T - RB1_000002 - - - - Despoina Kalfakakou
./. 1 - c.1390-17T>A r.(=) p.(=) g.48954172T>A - RB1_000083 - - - - Despoina Kalfakakou
./. 1 - c.1390-11A>G r.(=) p.(=) g.48954178A>G - RB1_000034 - - - - Despoina Kalfakakou
./. 1 - c.1399C>A r.(=) p.(=) g.48954198C>A - RB1_000003 - - - - Despoina Kalfakakou
./. 1 - c.1404A>G r.(=) p.(=) g.48954203A>G - RB1_000068 - - - - Despoina Kalfakakou
./. 1 - c.1421+20_1421+21insA r.(=) p.(=) g.48954240_48954241insA - RB1_000033 - - - - Despoina Kalfakakou
./. 1 - c.1421+27T>A r.(=) p.(=) g.48954247T>A - RB1_000077 - - - - Despoina Kalfakakou
./. 1 - c.1502G>T r.(?) p.(Ser501Ile) g.48955386G>T - RB1_000052 - - - - Despoina Kalfakakou
./. 1 - c.1505C>T r.(?) p.(Thr502Ile) g.48955389C>T - RB1_000071 - - - - Despoina Kalfakakou
./. 1 - c.1660G>A r.(?) p.(Glu554Lys) g.48955544G>A - RB1_000059 - - - - Despoina Kalfakakou
./. 1 - c.1662A>G r.(=) p.(=) g.48955546A>G - RB1_000084 - - - - Despoina Kalfakakou
./. 1 - c.1696-14C>T r.(=) p.(=) g.49027115C>T - RB1_000085 - - - - Despoina Kalfakakou
./. 1 - c.1702C>A r.(?) p.(Pro568Thr) g.49027135C>A - RB1_000079 - - - - Despoina Kalfakakou
./. 2 - c.1707A>G r.(=) p.(=) g.49027140A>G - RB1_000019 rs3092895 - - - Despoina Kalfakakou
./. 1 - c.1755C>T r.(=) p.(=) g.49027188C>T - RB1_000070 - - - - Despoina Kalfakakou
./. 1 - c.1770T>C r.(=) p.(=) g.49027203T>C - RB1_000032 - - - - Despoina Kalfakakou
./. 1 - c.1814+35C>A r.(=) p.(=) g.49027282C>A - RB1_000020 - - - - Despoina Kalfakakou
./. 1 - c.1815G>A r.(?) p.(Met605Ile) g.49030340G>A - RB1_000058 - - - - Despoina Kalfakakou
./. 1 - c.1862G>A r.(?) p.(Arg621His) g.49030387G>A - RB1_000080 - - - - Despoina Kalfakakou
./. 1 - c.1957A>C r.(?) p.(Lys653Gln) g.49030482A>C - RB1_000021 - - - - Despoina Kalfakakou
./. 1 - c.1960+19T>A r.(=) p.(=) g.49030504T>A - RB1_000046 - - - - Despoina Kalfakakou
./. 2 - c.1961-12T>C r.(=) p.(=) g.49033812T>C - RB1_000053 - - - - Despoina Kalfakakou
./. 1 - c.1967G>A r.(?) p.(Arg656Gln) g.49033830G>A - RB1_000060 - - - - Despoina Kalfakakou
./. 1 - c.1968G>T r.(=) p.(=) g.49033831G>T - RB1_000056 - - - - Despoina Kalfakakou
./. 3 - c.1988A>G r.(?) p.(Asn663Ser) g.49033851A>G - RB1_000040 - - - - Despoina Kalfakakou
./. 1 - c.2020C>T r.(?) p.(Pro674Ser) g.49033883C>T - RB1_000061 - - - - Despoina Kalfakakou
./. 1 - c.2106+22C>T r.(=) p.(=) g.49033991C>T - RB1_000063 - - - - Despoina Kalfakakou
./. 1 - c.2165A>G r.(?) p.(Lys722Arg) g.49037925A>G - RB1_000078 - - - - Despoina Kalfakakou
./. 1 - c.2211+45A>G r.(=) p.(=) g.49038016A>G - RB1_000054 - - - - Despoina Kalfakakou
./. 48 - c.2212-39del r.(=) p.(=) g.49039095del - RB1_000023 - - - - Despoina Kalfakakou
./. 49 - c.2212-39dup r.(=) p.(=) g.49039095dup - RB1_000022 - - - - Despoina Kalfakakou
./. 9 - c.2212-39_2212-38del r.(=) p.(=) g.49039095_49039096del - RB1_000004 - - - - Despoina Kalfakakou
./. 1 - c.2212-39_2212-38dup r.(=) p.(=) g.49039095_49039096dup - RB1_000072 - - - - Despoina Kalfakakou
./. 8 - c.2212-38dup r.(=) p.(=) g.49039096dup - RB1_000005 - - - - Despoina Kalfakakou
./. 1 - c.2212-16T>A r.(=) p.(=) g.49039118T>A - RB1_000050 - - - - Despoina Kalfakakou
./. 1 - c.2212-9C>A r.(=) p.(=) g.49039125C>A - RB1_000087 - - - - Despoina Kalfakakou
./. 1 - c.2345T>C r.(?) p.(Ile782Thr) g.49039360T>C - RB1_000037 - - - - Despoina Kalfakakou
./. 4 - c.2360G>A r.(?) p.(Arg787Gln) g.49039375G>A - RB1_000024 - - - - Despoina Kalfakakou
./. 1 - c.2392C>T r.(?) p.(Arg798Trp) g.49039407C>T - RB1_000055 - - - - Despoina Kalfakakou
./. 1 - c.2393G>A r.(?) p.(Arg798Gln) g.49039408G>A - RB1_000038 - - - - Despoina Kalfakakou
./. 1 - c.2455C>T r.(=) p.(=) g.49039470C>T - RB1_000091 - - - - Despoina Kalfakakou
./. 21 - c.2490-45A>G r.(=) p.(=) g.49047451A>G - RB1_000006 rs4151610 - - - Despoina Kalfakakou
./. 7 - c.2490-43A>G r.(=) p.(=) g.49047453A>G - RB1_000007 - - - - Despoina Kalfakakou
./. 1 - c.2490-4A>G r.spl? p.? g.49047492A>G - RB1_000041 - - - - Despoina Kalfakakou
./. 33 - c.2521-11G>A r.(=) p.(=) g.49050826G>A - RB1_000001 rs4151624 - - - Despoina Kalfakakou
./. 1 - c.2607T>G r.(=) p.(=) g.49050923T>G - RB1_000047 - - - - Despoina Kalfakakou
./. 1 - c.2663+38T>A r.(=) p.(=) g.49051017T>A - RB1_000082 - - - - Despoina Kalfakakou
./. 1 - c.2664-46C>T r.(=) p.(=) g.49051445C>T - RB1_000081 - - - - Despoina Kalfakakou
./. 1 - c.2714-42A>G r.(=) p.(=) g.49054092A>G - RB1_000039 - - - - Despoina Kalfakakou
Legend