Transcript #00020511

Transcript name syntaxin 1B
Gene name STX1B (syntaxin 1B)
Chromosome 16
Transcript - NCBI ID NM_052874.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_443106.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-866967_*3820991dup - - -
?/. - c.46G>A VUS r.(?) p.(Asp16Asn)
+?/. - c.206-2A>T likely pathogenic r.spl? p.?
+?/. - c.210del likely pathogenic r.(?) p.(Lys71Asnfs*22)
?/. - c.253G>T VUS r.(?) p.(Ala85Ser)
+?/. - c.485_486del likely pathogenic r.(?) p.(Glu162Glyfs*17)
?/. - c.611T>C VUS r.(?) p.(Leu204Pro)
+?/. - c.733C>T likely pathogenic r.(?) p.(Arg245*)
-/. - c.*4680A>G benign r.(=) p.(=)
-?/. - c.*4708A>G likely benign r.(=) p.(=)
-/. - c.*4892C>T benign r.(=) p.(=)
-/. - c.*5000T>C benign r.(=) p.(=)
-?/. - c.*6364G>A likely benign r.(=) p.(=)
?/. - c.*7091G>T VUS r.(=) p.(=)
-?/. - c.*7092T>C likely benign r.(=) p.(=)
+/. - c.*7117_*7118del pathogenic r.(=) p.(=)
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