Full data view for gene ST3GAL5

Information The variants shown are described using the NM_003896.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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-?/. - c.70C>T likely benign r.(?) p.(Pro24Ser) Unknown g.86115959G>A - ST3GAL5(NM_003896.3):c.70C>T (p.(Pro24Ser)) - ST3GAL5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.336dup VUS r.(?) p.(Gln113Serfs*22) Unknown g.86075310dup - ST3GAL5(NM_001042437.1):c.267_268insT (p.(Gln90SerfsTer22)) - ST3GAL5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.479C>A VUS r.(?) p.(Pro160His) Unknown g.86075167G>T - - - ST3GAL5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.584G>C pathogenic (recessive) r.(?) p.(Cys195Ser) Paternal (confirmed) g.86075062C>G - - - ST3GAL5_000006 - PubMed: Lee 2016, OMIM:var0003 - rs886037930 Germline yes - - 0 - DNA SEQ, SEQ-NG - WES ? 27232954-FamPat PubMed: Lee 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Korea - - 0 - - 2 Johan den Dunnen
+/. 4 c.601G>A pathogenic (recessive) r.(?) p.(Gly201Arg) Maternal (confirmed) g.86075045C>T - - - ST3GAL5_000007 - PubMed: Lee 2016, OMIM:var0004 - rs771732955 Germline yes - - 0 - DNA SEQ, SEQ-NG - WES ? 27232954-FamPat PubMed: Lee 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Korea - - 0 - - 2 Johan den Dunnen
+/. - c.862C>T pathogenic r.(?) p.(Arg288*) Unknown g.86071665G>A - ST3GAL5(NM_003896.3):c.862C>T (p.R288*) - ST3GAL5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.862C>T pathogenic (recessive) r.(?) p.(Arg288*) Both (homozygous) g.86071665G>A - 694C>T (R232X) - ST3GAL5_000001 linkage LOD 6.84 around marker D2S2162 PubMed: Simpson 2004, OMIM:var0001 - rs104893668 Germline yes - - 0 - DNA SEQ - - epilepsy 15502825-Fam PubMed: Simpson 2004 8-generation family, 9 affected (2F, 7M), unaffected carrier parents/relatives F;M yes United States Amish - 0 - - 9 Johan den Dunnen
+/. 6 c.862C>T pathogenic (recessive) r.(?) p.(Arg288*) Both (homozygous) g.86071665G>A - - - ST3GAL5_000001 - PubMed: Fragaki 2013, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES epilepsy 22990144-FamPatV5/6 PubMed: Fragaki 2013 5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes France - - 0 - - 2 Johan den Dunnen
+/. 6 c.862C>T pathogenic (recessive) r.(?) p.(Arg288*) Both (homozygous) g.86071665G>A - - - ST3GAL5_000001 - PubMed: Wang 2016, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ - - SPDRS 26649472-Pats PubMed: Wang 2016 28 individuals (12 males and 16 females), unaffected heterozygous carrier parents/relatives F;M yes United States - - 0 - - 28 Johan den Dunnen
+/. 7 c.1024G>A pathogenic (recessive) r.(?) p.(Gly342Ser) Both (homozygous) g.86067500C>T g.85840377C>T - - ST3GAL5_000004 - submitted - - Germline - - - 0 - DNA, RNA, protein expr, SEQ, SEQ-NG-I - TruSightONE Clinical Exome CDG - submitted - F no Italy white 13y 0 - - 1 Marco Trinchera
+/. 7 c.1063G>A pathogenic (recessive) r.(?) p.(Glu355Lys) Both (homozygous) g.86067461C>T - 994G>A (E332K) - ST3GAL5_000005 tested in vitro PubMed: Boccuto 2014, OMIM:var0002 - rs534438354 Germline yes - - 0 - DNA SEQ, SEQ-NG - WES SPDRS 24026681-FamK6848 PubMed: Boccuto 2014 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes United States African-American - 0 - - 3 Johan den Dunnen
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