Full data view for gene B3GNT1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_006876.2 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.69G>C r.(?) p.(Ala23=) Unknown - likely benign g.66114948C>G g.66347477C>G B4GAT1(NM_006876.2):c.69G>C (p.A23=) - B3GNT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.355C>A r.(?) p.(Pro119Thr) Parent #1 - VUS g.66114662G>T g.66347191G>T - - B3GNT1_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201892419 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.642T>C r.(?) p.(Asn214=) Unknown - likely benign g.66114375A>G g.66346904A>G B4GAT1(NM_006876.2):c.642T>C (p.N214=) - B3GNT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1168A>G r.(?) p.(Asn390Asp) Both (homozygous) - pathogenic g.66113600T>C g.66346129T>C - - B3GNT1_000001 homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes PubMed: Buysse 2013 - - Germline yes 1/77 families - - - DNA SEQ - - WWS - PubMed: Buysse 2013 2-generation family, 4 affecteds (3 terminated pregnancies), unaffected heterozygous carrier parents M no India East 02y - - - 4 Johan den Dunnen
+/. 1 c.1168A>G r.(?) p.(Asn390Asp) Parent #1 - pathogenic g.66113600T>C g.66346129T>C - - B3GNT1_000001 homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes PubMed: Buysse 2013 - - Germline yes 1/77 families - - - DNA SEQ - - ? - PubMed: Buysse 2013 2-generation family, 3 unaffected carriers (parents/brother patients) - no India East - - - - 3 Johan den Dunnen
+/. 1 c.1168A>G r.(?) p.Asn390Asp Unknown - NA g.66113600T>C g.66346129T>C - - B3GNT1_000001 expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function PubMed: Buysse 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1168A>G r.(?) p.Asn390Asp Parent #1 - NA g.66113600T>C g.66346129T>C - - B3GNT1_000001 expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function PubMed: Buysse 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168A>G r.(?) p.(Asn390Asp) Parent #1 - VUS g.66113600T>C g.66346129T>C - - B3GNT1_000001 no interpretation available; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397509397 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 1 c.1217C>T r.(?) p.(Ala406Val) Both (homozygous) - pathogenic g.66113551G>A g.66346080G>A - - B3GNT1_000002 homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes PubMed: Buysse 2013 - - Germline yes 1/77 families - - - DNA SEQ - - WWS - PubMed: Buysse 2013 2-generation family, 4 affecteds (3 terminated pregnancies), unaffected heterozygous carrier parents M no India East 02y - - - 4 Johan den Dunnen
+/. 1 c.1217C>T r.(?) p.(Ala406Val) Parent #1 - pathogenic g.66113551G>A g.66346080G>A - - B3GNT1_000002 homozygosity mapping; not in 5739 exomes EVS/672 in-house exomes PubMed: Buysse 2013 - - Germline yes 1/77 families - - - DNA SEQ - - ? - PubMed: Buysse 2013 2-generation family, 3 unaffected carriers (parents/brother patients) - no India East - - - - 3 Johan den Dunnen
+/. 1 c.1217C>T r.(?) p.Ala406Val Unknown - NA g.66113551G>A g.66346080G>A - - B3GNT1_000002 expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function PubMed: Buysse 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.1217C>T r.(?) p.Ala406Val Parent #1 - NA g.66113551G>A g.66346080G>A - - B3GNT1_000002 expression cloning; normal cellular localisation, significantly decreased glycosyltransferase function PubMed: Buysse 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217C>T r.(?) p.(Ala406Val) Parent #1 - VUS g.66113551G>A g.66346080G>A - - B3GNT1_000002 no interpretation available; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397509396 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.*3817G>A r.(=) p.(=) Unknown - VUS g.66109703C>T g.66342232C>T BRMS1(NM_001024957.1):c.3G>A (p.(Met1?)) - B3GNT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4712G>T r.(=) p.(=) Unknown - likely benign g.66108808C>A g.66341337C>A BRMS1(NM_001024957.1):c.231-4G>T (p.?) - BRMS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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