All transcript variants in gene RB1

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

411 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. - c.30C>T r.(=) p.(=) g.48878078C>T - RB1_000013 - - - - - - - Despoina Kalfakakou
./. - c.42C>T r.(=) p.(=) g.48878090C>T - RB1_000069 - - - - - - - Despoina Kalfakakou
./. - c.42C>T r.(=) p.(=) g.48878090C>T - RB1_000069 - - - - - - - Despoina Kalfakakou
./. - c.59C>T r.(?) p.(Pro20Leu) g.48878107C>T - RB1_000057 - - - - - - - Despoina Kalfakakou
./. - c.59C>T r.(?) p.(Pro20Leu) g.48878107C>T - RB1_000057 - - - - - - - Despoina Kalfakakou
./. - c.59C>T r.(?) p.(Pro20Leu) g.48878107C>T - RB1_000057 - - - - - - - Despoina Kalfakakou
./. - c.59C>T r.(?) p.(Pro20Leu) g.48878107C>T - RB1_000057 - - - - - - - Despoina Kalfakakou
./. - c.83C>T r.(?) p.(Pro28Leu) g.48878131C>T - RB1_000014 - - - - - - - Despoina Kalfakakou
./. - c.94G>A r.(?) p.(Asp32Asn) g.48878142G>A - RB1_000075 - - - - - - - Despoina Kalfakakou
./. - c.106G>C r.(?) p.(Asp36His) g.48878154G>C - RB1_000049 - - - - - - - Despoina Kalfakakou
./. - c.106G>C r.(?) p.(Asp36His) g.48878154G>C - RB1_000049 - - - - - - - Despoina Kalfakakou
./. - c.106G>C r.(?) p.(Asp36His) g.48878154G>C - RB1_000049 - - - - - - - Despoina Kalfakakou
./. - c.106G>C r.(?) p.(Asp36His) g.48878154G>C - RB1_000049 - - - - - - - Despoina Kalfakakou
./. - c.113G>A r.(?) p.(Gly38Asp) g.48878161G>A - RB1_000025 - - - - - - - Despoina Kalfakakou
./. - c.113G>A r.(?) p.(Gly38Asp) g.48878161G>A - RB1_000025 - - - - - - - Despoina Kalfakakou
./. - c.137+30G>A r.(=) p.(=) g.48878215G>A - RB1_000064 - - - - - - - Despoina Kalfakakou
./. - c.224G>T r.(?) p.(Trp75Leu) g.48881502G>T - RB1_000076 - - - - - - - Despoina Kalfakakou
./. - c.264+22T>G r.(=) p.(=) g.48881564T>G - RB1_000092 - - - - - - - Despoina Kalfakakou
./. - c.264+39T>G r.(=) p.(=) g.48881581T>G - RB1_000015 - - - - - - - Despoina Kalfakakou
./. - c.264+39T>G r.(=) p.(=) g.48881581T>G - RB1_000015 - - - - - - - Despoina Kalfakakou
./. - c.265-37T>C r.(=) p.(=) g.48916698T>C - RB1_000045 - - - - - - - Despoina Kalfakakou
./. - c.304T>C r.(?) p.(Cys102Arg) g.48916774T>C - RB1_000044 - - - - - - - Despoina Kalfakakou
./. - c.331G>A r.(?) p.(Asp111Asn) g.48916801G>A - RB1_000035 - - - - - - - Despoina Kalfakakou
./. - c.367A>G r.(?) p.(Asn123Asp) g.48916837A>G - RB1_000089 - - - - - - - Despoina Kalfakakou
./. - c.380+10C>G r.(=) p.(=) g.48916860C>G - RB1_000088 - - - - - - - Despoina Kalfakakou
./. - c.380+33C>A r.(=) p.(=) g.48916883C>A - RB1_000051 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou
./. - c.380+46G>A r.(=) p.(=) g.48916896G>A - RB1_000031 - - - - - - - Despoina Kalfakakou
./. - c.462G>A r.(=) p.(=) g.48919297G>A - RB1_000073 - - - - - - - Despoina Kalfakakou
./. - c.501-47C>T r.(=) p.(=) g.48921914C>T - RB1_000095 - - - - - - - Despoina Kalfakakou
./. - c.501-45del r.(=) p.(=) g.48921916del - RB1_000065 - - - - - - - Despoina Kalfakakou
./. - c.540-31_540-30insT r.(=) p.(=) g.48923061_48923062insT - RB1_000026 - - - - - - - Despoina Kalfakakou
./. - c.540-31_540-30insT r.(=) p.(=) g.48923061_48923062insT - RB1_000026 - - - - - - - Despoina Kalfakakou
./. - c.540-23T>C r.(=) p.(=) g.48923069T>C - RB1_000042 - - - - - - - Despoina Kalfakakou
./. - c.541A>G r.(?) p.(Ile181Val) g.48923093A>G - RB1_000027 - - - - - - - Despoina Kalfakakou
./. - c.689C>T r.(?) p.(Ser230Leu) g.48934234C>T - RB1_000074 - - - - - - - Despoina Kalfakakou
./. - c.718+26T>C r.(=) p.(=) g.48934289T>C - RB1_000028 rs3092867 - - - - - - Despoina Kalfakakou
./. - c.718+26T>C r.(=) p.(=) g.48934289T>C - RB1_000028 rs3092867 - - - - - - Despoina Kalfakakou
./. - c.719-45A>G r.(=) p.(=) g.48936906A>G - RB1_000043 - - - - - - - Despoina Kalfakakou
./. - c.862-15C>A r.(=) p.(=) g.48939015C>A - RB1_000029 - - - - - - - Despoina Kalfakakou
./. - c.862-15C>A r.(=) p.(=) g.48939015C>A - RB1_000029 - - - - - - - Despoina Kalfakakou
./. - c.862-15C>A r.(=) p.(=) g.48939015C>A - RB1_000029 - - - - - - - Despoina Kalfakakou
./. - c.862-15C>A r.(=) p.(=) g.48939015C>A - RB1_000029 - - - - - - - Despoina Kalfakakou
./. - c.897T>A r.(?) p.(Phe299Leu) g.48939065T>A - RB1_000048 - - - - - - - Despoina Kalfakakou
./. - c.897T>A r.(?) p.(Phe299Leu) g.48939065T>A - RB1_000048 - - - - - - - Despoina Kalfakakou
./. - c.897T>A r.(?) p.(Phe299Leu) g.48939065T>A - RB1_000048 - - - - - - - Despoina Kalfakakou
./. - c.920C>T r.(?) p.(Thr307Ile) g.48939088C>T - RB1_000086 rs79585013 - - - - - - Despoina Kalfakakou
./. - c.920C>T r.(?) p.(Thr307Ile) g.48939088C>T - RB1_000086 rs79585013 - - - - - - Despoina Kalfakakou
./. - c.929G>A r.(?) p.(Gly310Glu) g.48939097G>A - RB1_000009 - - - - - - - Despoina Kalfakakou
./. - c.929G>A r.(?) p.(Gly310Glu) g.48939097G>A - RB1_000009 - - - - - - - Despoina Kalfakakou
./. - c.939+37T>C r.(=) p.(=) g.48939144T>C - RB1_000030 - - - - - - - Despoina Kalfakakou
./. - c.939+37T>C r.(=) p.(=) g.48939144T>C - RB1_000030 - - - - - - - Despoina Kalfakakou
./. - c.958C>T r.(?) p.(Arg320*) g.48941648C>T - RB1_000066 - - - - - - - Despoina Kalfakakou
./. - c.1095G>A r.(=) p.(=) g.48942708G>A - RB1_000090 - - - - - - - Despoina Kalfakakou
./. - c.1127+20T>C r.(=) p.(=) g.48942760T>C - RB1_000036 - - - - - - - Despoina Kalfakakou
./. - c.1128-38C>T r.(=) p.(=) g.48947503C>T - RB1_000016 - - - - - - - Despoina Kalfakakou
./. - c.1128-38C>T r.(=) p.(=) g.48947503C>T - RB1_000016 - - - - - - - Despoina Kalfakakou
./. - c.1140C>T r.(=) p.(=) g.48947553C>T - RB1_000062 - - - - - - - Despoina Kalfakakou
./. - c.1140C>T r.(=) p.(=) g.48947553C>T - RB1_000062 - - - - - - - Despoina Kalfakakou
./. - c.1333-29C>T r.(=) p.(=) g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou
./. - c.1333-29C>T r.(=) p.(=) g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou
./. - c.1333-29C>T r.(=) p.(=) g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou
./. - c.1333-29C>T r.(=) p.(=) g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou
./. - c.1333-29C>T r.(=) p.(=) g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou
./. - c.1333-29C>T r.(=) p.(=) g.48953701C>T - RB1_000010 - - - - - - - Despoina Kalfakakou
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