Transcript #00000278

Transcript name transcript variant 1
Gene name BCS1L (BCS1-like (S. cerevisiae))
Chromosome 2
Transcript - NCBI ID NM_004328.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004319.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

14 entries on 1 page. Showing entries 1 - 14.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/? 2i c.-50+155T>A - r.? p.?
+/+ 03 c.166C>T - r.166c>u p.Arg56*
+?/. - c.205C>T likely pathogenic r.(?) p.(Arg69Cys)
+/. - c.232A>G pathogenic r.(?) p.(Ser78Gly)
+/+ 03 c.232A>G - r.232a>g p.Ser78Gly
+?/. - c.268C>T likely pathogenic r.(?) p.(Arg90Cys)
+?/+? 1 c.296C>T - r.(296c>u) p.(Pro99Leu)
+?/+? 3i c.320+1G>T - r.spl p.?
+?/+? 04 c.431G>A - r.431g>a p.Arg144Gln
+/. - c.478C>T pathogenic r.(?) p.(Gln160*)
+/. - c.556C>T pathogenic r.(?) p.(Arg186*)
?/. - c.599G>A VUS r.(?) p.(Arg200Gln)
?/. - c.796C>T VUS r.(?) p.(Leu266Phe)
+?/+? 07 c.980T>C - r.980u>c p.Val327Ala
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