Transcript #00002374

Transcript name transcript variant 1
Gene name ALG8 (asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae))
Chromosome 11
Transcript - NCBI ID NM_024079.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_076984.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.32G>C likely benign r.(?) p.(Gly11Ala)
?/. - c.96-6G>C VUS r.(=) p.(=)
-?/. - c.96-6G>C likely benign r.(=) p.(=)
+/+ 2 c.139A>C pathogenic r.(?) p.(Thr47Pro)
+/+ 2 c.139A>C pathogenic r.(?) p.(Thr47Pro)
-/. - c.174+30del benign r.(=) p.(=)
-/. - c.175-18C>A benign r.(=) p.(=)
+/+ 2i c.175-2A>G pathogenic r.(=) p.(=)
+/+ 2i c.175-2A>G pathogenic r.(=) p.(=)
-?/. - c.441A>T likely benign r.(?) p.(=)
-/. - c.665A>G benign r.(?) p.(Asn222Ser)
-/. - c.665A>G benign r.(?) p.(Asn222Ser)
-?/. - c.675T>C likely benign r.(?) p.(=)
-/. - c.803G>A benign r.(?) p.(Arg268Gln)
-/. - c.803G>A benign r.(?) p.(Arg268Gln)
-/. - c.862T>C benign r.(?) p.(=)
-?/. - c.1039-5T>C likely benign r.spl? p.?
-?/. - c.1117T>C likely benign r.(?) p.(Ser373Pro)
-/. - c.1316T>C benign r.(?) p.(Ile439Thr)
-/. - c.1349+1025_1349+1028del benign r.(=) p.(=)
-/. - c.1349+1027_1349+1028del benign r.(=) p.(=)
-?/. - c.1349+1027_1349+1028del likely benign r.(=) p.(=)
-/. - c.1349+1027_1349+1028dup benign r.(=) p.(=)
-?/. - c.1349+1028del likely benign r.(=) p.(=)
-/. - c.1349+1085A>G benign r.(=) p.(=)
-/. - c.*20A>G benign r.(=) p.(=)
-/. - c.*20A>G benign r.(=) p.(=)
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