Full data view for gene B3GLCT

NOTE: the name of this gene was recently changed from B3GALTL to B3GLCT.
Information The variants shown are described using the NM_194318.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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Remarks     

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Panel size     

Owner     
+/+ 8i c.660+1G>A - r.spl? p.? Paternal (confirmed) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006, PubMed: Hess 2008 - - Germline - - - 0 - DNA SEQ-NG-I - - - - - - - - - - - - - - - -
+/+ 8i c.660+1G>A - r.spl? p.? Paternal (confirmed) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 two brothers; lymphocyte RNA M - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Parent #2 g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - RNA RT-PCR, SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 sister of 1201.6 / 68882; lymphocyte RNA F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Parent #2 g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - RNA RT-PCR, SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 brother of 1201.5 / 68882; lymphocyte RNA M - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 sister of 1200.2 F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 sister of 1200.1 F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 sister of 1100.2 F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 brother of 1100.1 M - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - M - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - M - Turkey - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - M - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 sister of 1900.2 F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Germline - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 brother of 1900.1 M - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - F - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - M - Netherlands - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - M - United Kingdom (Great Britain) - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - F - - Arab - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A 1020+1G>A - B3GLCT_000002 - PubMed: Lesnik Oberstein 2006 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Lesnik Oberstein 2006 - M - India - - 0 - - 1 Martine van Belzen
?/? 8i c.660+1G>A - r.spl? p.? Unknown g.31843415G>A g.31269278G>A - - B3GLCT_000002 - - - rs80338851 Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
+/? 8i c.660+1G>A - r.spl? p.? Paternal (confirmed) g.31843415G>A g.31269278G>A - - B3GLCT_000002 - PubMed: Dassie-Ajdid 2009 - - Unknown - - - 0 - DNA SEQ - - Peters-plus syndrome - PubMed: Dassie-Ajdid 2009 - M - Sri Lanka - - 0 - - 1 Johan den Dunnen
?/. 8i c.660+1G>A - r.(=) p.(=) Both (homozygous) g.31843415G>A g.31269278G>A - - B3GLCT_000002 - PubMed: Almomani 2011 - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 8i c.660+1G>A Pathogenic r.spl? p.? Both (homozygous) g.31843415G>A g.31269278G>A - - B3GLCT_000002 Founder mutation - - rs80338851 Germline yes - - 0 - DNA SEQ, SEQ-NG Blood - Peters-plus syndrome - - - ? ? United Kingdom (Great Britain) - - 0 Yes - 1 Karen Stals
+/. - c.660+1G>A pathogenic r.spl? p.? Unknown g.31843415G>A - B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.660+1G>A pathogenic r.spl? p.? Unknown g.31843415G>A - B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.660+1G>A likely pathogenic r.spl? p.? Unknown g.31843415G>A - B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.660+1G>A pathogenic r.spl? p.? Unknown g.31843415G>A - B3GALTL(NM_194318.3):c.660+1G>A (p.?), B3GLCT(NM_194318.3):c.660+1G>A - B3GLCT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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