Transcript #00025300

Transcript name transcript variant 1
Gene name ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5)
Chromosome 2
Transcript - NCBI ID NM_003896.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003887.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.70C>T likely benign r.(?) p.(Pro24Ser)
?/. - c.336dup VUS r.(?) p.(Gln113Serfs*22)
?/. - c.479C>A VUS r.(?) p.(Pro160His)
+/. 4 c.584G>C pathogenic (recessive) r.(?) p.(Cys195Ser)
+/. 4 c.601G>A pathogenic (recessive) r.(?) p.(Gly201Arg)
+/. 6 c.862C>T pathogenic (recessive) r.(?) p.(Arg288*)
+/. - c.862C>T pathogenic r.(?) p.(Arg288*)
+/. 6 c.862C>T pathogenic (recessive) r.(?) p.(Arg288*)
+/. 6 c.862C>T pathogenic (recessive) r.(?) p.(Arg288*)
+/. 7 c.1024G>A pathogenic (recessive) r.(?) p.(Gly342Ser)
+/. 7 c.1063G>A pathogenic (recessive) r.(?) p.(Glu355Lys)
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