Transcript #00000192

Transcript name Shwachman-Bodian-Diamond syndrome
Gene name SBDS (SBDS ribosome maturation factor)
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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-16T>A r.(=) p.(=)
./. - c.-16T>A r.(=) p.(=)
./. - c.-16T>A r.(=) p.(=)
./. - c.-16T>A r.(=) p.(=)
./. - c.66T>C r.(=) p.(=)
./. - c.70G>A r.(?) p.(Gly24Arg)
./. - c.98A>G r.(?) p.(Lys33Arg)
./. - c.107T>C r.(?) p.(Val36Ala)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.127G>T r.(?) p.(Val43Leu)
./. - c.128+9C>A r.(=) p.(=)
./. - c.129-51G>T r.(=) p.(=)
./. - c.183T>C r.(=) p.(=)
./. - c.183T>C r.(=) p.(=)
./. - c.184A>T r.(?) p.(Lys62*)
./. - c.184A>T r.(?) p.(Lys62*)
./. - c.192G>C r.(?) p.(Gln64His)
./. - c.235G>C r.(?) p.(Asp79His)
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+2T>C r.spl? p.?
./. - c.258+49A>G - -
./. - c.259-20A>C r.(=) p.(=)
./. - c.266C>G r.(?) p.(Thr89Ser)
./. - c.304A>G r.(?) p.(Thr102Ala)
./. - c.338C>T r.(?) p.(Thr113Ile)
./. - c.387C>T r.(=) p.(=)
./. - c.460-1G>A r.spl? p.?
./. - c.460-1G>A r.spl? p.?
./. - c.460-1G>A r.spl? p.?
./. - c.460-1G>A r.spl? p.?
./. - c.460-1G>A r.spl? p.?
./. - c.625-46_625-45del r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-29G>T r.(=) p.(=)
./. - c.625-28T>G r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
./. - c.625-22T>A r.(=) p.(=)
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