Transcript #00016618

Transcript name Shwachman-Bodian-Diamond syndrome
Gene name SBDS (Shwachman-Bodian-Diamond syndrome)
Chromosome 7
Transcript - NCBI ID NM_016038.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_057122.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

36 entries on 1 page. Showing entries 1 - 36.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-51C>A r.(=) p.(=)
?/? c.-28C>T r.(=) p.(=)
?/? c.-16T>A r.(=) p.(=)
?/? c.36A>G r.(=) p.(=)
?/? c.98A>G r.(?) p.(Lys33Arg)
?/? c.128+9C>A r.(=) p.(=)
?/? c.128+40G>A r.(=) p.(=)
?/? c.129-36A>G r.(=) p.(=)
?/? c.141C>T r.(=) p.(=)
?/? c.160C>T r.(?) p.(His54Tyr)
?/? c.164C>G r.(?) p.(Ser55*)
?/? c.170T>C r.(?) p.(Phe57Ser)
?/? c.189T>G r.(=) p.(=)
?/? c.196G>A r.(?) p.(Ala66Thr)
?/? c.201A>G r.(=) p.(=)
?/? c.258+2T>C r.spl? p.?
?/? c.258+19A>G r.(=) p.(=)
?/? c.258+30T>A r.(=) p.(=)
?/? c.258+37C>T r.(=) p.(=)
?/? c.258+47G>A r.(=) p.(=)
?/? c.259-20A>C r.(=) p.(=)
?/? c.333T>C r.(=) p.(=)
?/? c.348A>C r.(=) p.(=)
?/? c.388G>A r.(?) p.(Val130Met)
?/? c.429G>A r.(=) p.(=)
?/? c.459+43A>G r.(=) p.(=)
?/? c.460-38T>C r.(=) p.(=)
?/? c.572_573insA r.(?) p.(Pro192Alafs*9)
?/? c.595A>G r.(?) p.(Ser199Gly)
?/? c.625-22T>A r.(=) p.(=)
?/? c.635T>C r.(?) p.(Ile212Thr)
?/? c.651C>T r.(=) p.(=)
?/? c.664G>C r.(?) p.(Glu222Gln)
?/? c.711C>T r.(=) p.(=)
?/? c.719A>G r.(?) p.(Lys240Arg)
?/? c.*41C>T r.(=) p.(=)
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