Transcript #00000071

Transcript name Fanconi anemia, complementation group B, transcript variant 1
Gene name FANCB (FA complementation group B)
Chromosome X
Transcript - NCBI ID NM_001018113.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001018123.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

76 entries on 1 page. Showing entries 1 - 76.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-39T>C r.(=) p.(=)
./. - c.-37T>A r.(=) p.(=)
./. - c.69T>C r.(=) p.(=)
./. - c.69T>C r.(=) p.(=)
./. - c.77A>G r.(?) p.(Gln26Arg)
./. - c.127T>A r.(?) p.(Leu43Ile)
./. - c.330A>C r.(=) p.(=)
./. - c.330A>C r.(=) p.(=)
./. - c.392A>G r.(?) p.(Lys131Arg)
./. - c.433A>G r.(?) p.(Arg145Gly)
./. - c.447A>T r.(=) p.(=)
./. - c.554G>T r.(?) p.(Gly185Val)
./. - c.554G>T r.(?) p.(Gly185Val)
./. - c.584A>G r.(?) p.(Glu195Gly)
./. - c.952-38del r.(=) p.(=)
./. - c.952-38del r.(=) p.(=)
./. - c.972A>T r.(?) p.(Lys324Asn)
./. - c.989T>C r.(?) p.(Ile330Thr)
./. - c.989T>C r.(?) p.(Ile330Thr)
./. - c.989T>C r.(?) p.(Ile330Thr)
./. - c.989T>C r.(?) p.(Ile330Thr)
./. - c.1104+34A>G r.(=) p.(=)
./. - c.1104+35G>T r.(=) p.(=)
./. - c.1104+35G>T r.(=) p.(=)
./. - c.1140T>A r.(?) p.(Phe380Leu)
./. - c.1140T>A r.(?) p.(Phe380Leu)
./. - c.1197+19_1197+21del r.(=) p.(=)
./. - c.1197+19_1197+21del r.(=) p.(=)
./. - c.1197+19_1197+21del r.(=) p.(=)
./. - c.1197+41A>T r.(=) p.(=)
./. - c.1197+41A>T r.(=) p.(=)
./. - c.1327-43C>T r.(=) p.(=)
./. - c.1327-43C>T r.(=) p.(=)
./. - c.1327-43C>T r.(=) p.(=)
./. - c.1505A>G r.(?) p.(Asn502Ser)
./. - c.1743A>G r.(=) p.(=)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1769T>C r.(?) p.(Phe590Ser)
./. - c.1817G>A r.(?) p.(Ser606Asn)
./. - c.1817G>A r.(?) p.(Ser606Asn)
./. - c.1928-19C>T r.(=) p.(=)
./. - c.2435A>G r.(?) p.(Tyr812Cys)
./. - c.2435A>G r.(?) p.(Tyr812Cys)
./. - c.2435A>G r.(?) p.(Tyr812Cys)
./. - c.2435A>G r.(?) p.(Tyr812Cys)
./. - c.2452A>G r.(?) p.(Arg818Gly)
./. - c.2452A>G r.(?) p.(Arg818Gly)
./. - c.2452A>G r.(?) p.(Arg818Gly)
./. - c.2452A>G r.(?) p.(Arg818Gly)
./. - c.2452A>G r.(?) p.(Arg818Gly)
./. - c.2452A>G r.(?) p.(Arg818Gly)
./. - c.2477C>T r.(?) p.(Thr826Met)
./. - c.2539T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
./. - c.*33T>C r.(=) p.(=)
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