Unique variants in the ST3GAL5 gene

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.70C>T r.(?) p.(Pro24Ser) - likely benign g.86115959G>A g.85888836G>A ST3GAL5(NM_003896.3):c.70C>T (p.(Pro24Ser)) - ST3GAL5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.282del r.(?) p.(Met94IlefsTer12) - likely pathogenic g.86088340del - ST3GAL5(NM_001354227.1):c.198delG (p.M66Ifs*12) - ST3GAL5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.318+1dup r.spl? p.? - VUS g.86088304dup - ST3GAL5(NM_001354233.1):c.-684+1dupG - ST3GAL5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.336dup r.(?) p.(Gln113SerfsTer22) - VUS g.86075310dup g.85848187dup ST3GAL5(NM_001042437.1):c.267_268insT (p.(Gln90SerfsTer22)) - ST3GAL5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.479C>A r.(?) p.(Pro160His) - VUS g.86075167G>T g.85848044G>T - - ST3GAL5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.584G>C r.(?) p.(Cys195Ser) - pathogenic (recessive) g.86075062C>G g.85847939C>G - - ST3GAL5_000006 - PubMed: Lee 2016, OMIM:var0003 - rs886037930 Germline yes - - - - Johan den Dunnen
+/. 1 4 c.601G>A r.(?) p.(Gly201Arg) - pathogenic (recessive) g.86075045C>T g.85847922C>T - - ST3GAL5_000007 - PubMed: Lee 2016, OMIM:var0004 - rs771732955 Germline yes - - - - Johan den Dunnen
+/. 4 6 c.862C>T r.(?) p.(Arg288*), p.(Arg288Ter) - pathogenic (recessive), pathogenic g.86071665G>A g.85844542G>A 694C>T (R232X), ST3GAL5(NM_003896.3):c.862C>T (p.R288*) - ST3GAL5_000001 linkage LOD 6.84 around marker D2S2162, VKGL data sharing initiative Nederland PubMed: Simpson 2004, OMIM:var0001, PubMed: Fragaki 2013, OMIM:var0001, 1 more item - rs104893668 Germline, CLASSIFICATION record yes - - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 7 c.1024G>A r.(?) p.(Gly342Ser) - pathogenic (recessive) g.86067500C>T g.85840377C>T - - ST3GAL5_000004 - submitted - - Germline - - - - - Marco Trinchera
+/. 1 7 c.1063G>A r.(?) p.(Glu355Lys) - pathogenic (recessive) g.86067461C>T g.85840338C>T 994G>A (E332K) - ST3GAL5_000005 tested in vitro PubMed: Boccuto 2014, OMIM:var0002 - rs534438354 Germline yes - - - - Johan den Dunnen
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