Transcript #00000189

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

28 entries on 1 page. Showing entries 1 - 28.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.127G>T likely benign r.(?) p.(Val43Leu)
-/. - c.141C>T benign r.(=) p.(=)
-/. - c.141C>T benign r.(=) p.(=)
+/. - c.183T>C pathogenic r.(=) p.(=)
+/. - c.183_184delinsCT pathogenic r.(?) p.(Lys62*)
+/. - c.183_184delinsCT pathogenic r.(?) p.(Lys62*)
+/. - c.184A>T pathogenic r.(?) p.(Lys62*)
+/. - c.184A>T pathogenic r.(?) p.(Lys62*)
-/. - c.201A>G benign r.(=) p.(=)
-/. - c.201A>G benign r.(=) p.(=)
+/. - c.258+2T>C pathogenic r.spl? p.?
./. - c.258+2T>C - r.spl? p.?
+/. - c.258+2T>C pathogenic r.spl? p.?
+/. - c.258+2T>C pathogenic r.spl? p.?
-/. - c.258+19A>G benign r.(=) p.(=)
-/. - c.258+54T>G benign r.(=) p.(=)
?/. - c.386C>G VUS r.(?) p.(Thr129Ser)
-?/. - c.635T>C likely benign r.(?) p.(Ile212Thr)
-/. - c.635T>C benign r.(?) p.(Ile212Thr)
-/. - c.635T>C benign r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
?/. - c.635T>C - r.(?) p.(Ile212Thr)
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