View transcript #00024

Transcript name retinoblastoma 1
Gene name RB1 (retinoblastoma 1)
Chromosome 13
Transcript - NCBI ID NM_000321.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000312.2
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

163 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 01 c.19C>T r.(?) p.(Arg7*)
+/+ 01 c.20_21dup r.(?) p.(Lys8Glufs*58)
+/+ 01 c.44_77del r.(?) p.(Ala15Glyfs*39)
+/+ 01 c.46_65dup r.(?) p.(Pro25Argfs*47)
+/+ 01 c.55G>T r.(?) p.(Glu19*)
+/+ 01 c.66_89dup r.(?) p.(Pro23_Glu30dup)
+/+ 01 c.83_84insC r.(?) p.(Pro29Serfs*2)
+/+ 01 c.91G>T r.(?) p.(Glu31*)
+/+ 01 c.124delC r.(?) p.(Leu42Cysfs*23)
?/? 01 c.137G>A r.(?) p.(Arg46Lys)
+/+ 01i c.138-2A>T r.spl? p.?
+/. 02 c.191T>G r.(?) p.(Leu64*)
+/+ 02 c.207dup r.(?) p.(Val70Cysfs*40)
+/+ 02 c.217_220delAGAG r.(?) p.(Arg73Leufs*3)
+/+ 02 c.219_220dup r.(?) p.(Ala74Glufs*4)
+/+ 02i c.264+4A>G r.spl? p.?
+/+ 02i c.265-2A>G r.spl? p.?
+/+ 03 c.269delG r.(?) p.(Gly90Valfs*21)
+/+ 03i c.380+3A>T r.spl? p.?
+/+ 03i c.381-2A>G r.spl? p.?
+/+ 04 c.409G>T r.(?) p.(Glu137*)
+/+ 04 c.474_489del16 r.(?) p.(Phe159Asnfs*11)
+/+ 04i c.500+2T>C r.spl? p.?
+/+ 05 c.526C>T r.(?) p.(Gln176*)
+/+ 05i c.540-1G>A r.spl? p.?
+/+ 06 c.575_576delAA r.(?) p.(Lys192Serfs*10)
+/+ 06 c.606delA r.(?) p.(Glu204Lysfs*10)
+/+ 06i c.607+1G>C r.spl? p.?
+/+ 06i c.607+1G>T r.spl? p.?
+/+ 06i c.607+1G>T r.spl? p.?
+/+ 06i c.607+2T>G r.spl? p.?
+/+ 06i c.608-4del r.spl? p.?
+/+ 07 c.657_658dup r.(?) p.(Leu220Argfs*45)
+/+ 07i c.718+1_718+2insC r.spl? p.?
+/+ 07i c.719-9C>G r.spl? p.?
+/+ 08 c.727_731delinsTAATGGTTTACCATGAAA r.(?) p.(Val243*)
+/+ 08 c.751C>T r.(?) p.(Arg251*)
+/+ 08 c.763C>T r.(?) p.(Arg255*)
+/+ 08 c.763C>T r.(?) p.(Arg255*)
+/+ 08 c.763C>T r.(?) p.(Arg255*)
+/+ 08 c.763C>T r.(?) p.(Arg255*)
+/+ 08 c.763C>T r.(?) p.(Arg255*)
+/+ 08 c.763C>T r.(?) p.(Arg255*)
+/+ 08 c.763C>T r.(?) p.(Arg255*)
+/+ 08 c.769C>T r.(?) p.(Gln257*)
+/+ 08 c.769_773delCAGAA r.(?) p.(Asn258Glufs*11)
+/+ 08 c.822delT r.(?) p.(Ile274Metfs*12)
+/+ 08 c.861G>C r.spl p.(Glu287Asp)
+/+ 08i c.861+3A>C r.spl? p.?
+/+ 09 c.882_885delAAAT r.(?) p.(Lys294Asnfs*6)
-?/-? 09 c.929G>A r.(?) p.(Gly310Glu)
-?/-? 09 c.929G>A r.(?) p.(Gly310Glu)
+/+ 09 c.931delC r.(?) p.(Leu311Phefs*21)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.958C>T r.(?) p.(Arg320*)
+/+ 10 c.967G>T r.(?) p.(Glu323*)
+/+ 10 c.1004T>A r.(?) p.(Leu335*)
+/. 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1072C>T r.(?) p.(Arg358*)
+/+ 11 c.1117_1118del r.(?) p.(Thr373Serfs*3)
+/. 12 c.1166T>G r.(?) p.(Leu389*)
+/+ 12i c.1215+1G>A r.spl? p.?
+/+ 12i c.1215+1G>A r.spl? p.?
+/+ 12i c.1215+1G>C r.spl? p.?
+/+ 12i c.1216-2A>G r.spl? p.?
+/. 13 c.1310delG r.(?) p.(Gly437Valfs*20)
+/+ 13i c.1333-2A>C r.spl? p.?
+/+ 13i c.1333-2A>G r.spl? p.?
+/+ 14 c.1333C>T r.(?) p.(Arg445*)
+/+ 14 c.1333C>T r.(?) p.(Arg445*)
+/+ 14 c.1333C>T r.(?) p.(Arg445*)
+/+ 14 c.1333C>T r.(?) p.(Arg445*)
+/+ 14 c.1333C>T r.(?) p.(Arg445*)
+/+ 14 c.1333_1339delinsTAATACAAG r.(?) p.(Arg445*)
+/. 14 c.1363C>T r.(?) p.(Arg455*)
+/+ 14 c.1363C>T r.(?) p.(Arg455*)
+/+ 14 c.1363C>T r.(?) p.(Arg455*)
+/+ 14i c.1389+1G>A r.spl? p.?
+/+ 14i c.1389+5G>A r.spl? p.?
+/+ 14i c.1389+5G>A r.spl p.?
+/+ ? c.1390-2A>G r.spl? p.?
+?/+? 16 c.1439_1441delACA r.(?) p.(Asn480del)
+/+ 16 c.1450_1451delAT r.(?) p.(Met484Valfs*8)
+/+ 16 c.1486_1498delinsTAAT r.(?) p.(Ala496*)
+/. 16 c.1494_1498+3del r.spl? p.?
+/+ 16i c.1499-1G>C r.spl? p.?
+/+ 17 c.1575delC r.(?) p.(Phe526Leufs*6)
+/+ 17 c.1654C>T r.(?) p.(Arg552*)
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