Transcript #00005911

Transcript name transcript variant 2
Gene name FANCB (Fanconi anemia, complementation group B)
Chromosome X
Transcript - NCBI ID NM_152633.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_689846.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

78 entries on 1 page. Showing entries 1 - 78.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.7A>G r.(?) p.(Ser3Gly)
?/? c.31G>A r.(?) p.(Glu11Lys)
?/? c.69T>C r.(=) p.(=)
?/? c.262G>A r.(?) p.(Gly88Arg)
?/? c.330A>C r.(=) p.(=)
?/? c.361C>T r.(?) p.(Arg121Cys)
?/? c.362G>A r.(?) p.(Arg121His)
?/? c.402A>G r.(=) p.(=)
?/? c.493G>C r.(?) p.(Gly165Arg)
?/? c.504C>G r.(=) p.(=)
?/? c.507T>C r.(=) p.(=)
?/? c.508A>C r.(?) p.(Ile170Leu)
?/? c.681C>T r.(=) p.(=)
?/? c.688C>T r.(?) p.(Pro230Ser)
?/? c.833A>G r.(?) p.(Gln278Arg)
?/? c.934T>C r.(?) p.(Trp312Arg)
?/? c.952-56_952-53del r.(=) p.(=)
?/? c.952-24_952-22del r.(=) p.(=)
?/? c.960T>G r.(=) p.(=)
?/? c.989T>C r.(?) p.(Ile330Thr)
?/? c.1004G>A r.(?) p.(Gly335Glu)
?/? c.1067C>T r.(?) p.(Ser356Leu)
?/? c.1098C>G r.(?) p.(Asn366Lys)
?/? c.1103C>T r.(?) p.(Ser368Leu)
?/? c.1105-45_1105-33del r.(=) p.(=)
?/? c.1105-10_1105-7del r.(=) p.(=)
?/? c.1105-10_1105-7dup r.(=) p.(=)
?/? c.1105-10_1105-3del N/A N/A
?/? c.1131T>G r.(?) p.(Asp377Glu)
?/? c.1148A>G r.(?) p.(Lys383Arg)
?/? c.1159C>T r.(?) p.(Arg387Cys)
?/? c.1197+19_1197+21del r.(=) p.(=)
?/? c.1197+21T>C r.(=) p.(=)
?/? c.1197+31G>A r.(=) p.(=)
?/? c.1289T>C r.(?) p.(Val430Ala)
?/? c.1327-43C>T r.(=) p.(=)
?/? c.1327-38C>T r.(=) p.(=)
?/? c.1327-37G>A r.(=) p.(=)
?/? c.1327-10T>C r.(=) p.(=)
?/? c.1327-3del r.spl? p.?
?/? c.1327-3dup r.spl? p.?
?/? c.1331A>T r.(?) p.(Glu444Val)
?/? c.1371C>T r.(=) p.(=)
?/? c.1373A>G r.(?) p.(His458Arg)
?/? c.1390T>C r.(=) p.(=)
?/? c.1393T>C r.(?) p.(Ser465Pro)
?/? c.1402T>A r.(?) p.(Phe468Ile)
?/? c.1426G>A r.(?) p.(Glu476Lys)
?/? c.1442G>A r.(?) p.(Arg481His)
?/? c.1497-17G>A r.(=) p.(=)
?/? c.1552T>A r.(?) p.(Phe518Ile)
?/? c.1570C>G r.(?) p.(Gln524Glu)
?/? c.1658C>T r.(?) p.(Thr553Met)
?/? c.1688G>T r.(?) p.(Ser563Ile)
?/? c.1720T>A r.(?) p.(Cys574Ser)
?/? c.1769T>C r.(?) p.(Phe590Ser)
?/? c.1817G>A r.(?) p.(Ser606Asn)
?/? c.1838G>A r.(?) p.(Arg613His)
?/? c.1894T>G r.(?) p.(Tyr632Asp)
?/? c.1924A>G r.(?) p.(Ile642Val)
?/? c.1996G>A r.(?) p.(Gly666Ser)
?/? c.2015T>C r.(?) p.(Met672Thr)
?/? c.2090C>T r.(?) p.(Pro697Leu)
?/? c.2146A>T r.(?) p.(Ile716Phe)
?/? c.2151A>T r.(?) p.(Leu717Phe)
?/? c.2157C>G r.(?) p.(Ile719Met)
?/? c.2171A>G r.(?) p.(Gln724Arg)
?/? c.2339A>G r.(?) p.(His780Arg)
?/? c.2342A>G r.(?) p.(Glu781Gly)
?/? c.2378G>A r.(?) p.(Gly793Glu)
?/? c.2394C>T r.(=) p.(=)
?/? c.2395G>A r.(?) p.(Ala799Thr)
?/? c.2411A>G r.(?) p.(Asp804Gly)
?/? c.2452A>G r.(?) p.(Arg818Gly)
?/? c.2477C>T r.(?) p.(Thr826Met)
?/? c.2485A>G r.(?) p.(Lys829Glu)
?/? c.*14T>C r.(=) p.(=)
?/? c.*33T>C r.(=) p.(=)
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