Full data view for gene B4GALT1

Information The variants shown are described using the NM_001497.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.5G>C r.(?) p.(Arg2Thr) Unknown - likely benign g.33167163C>G - B4GALT1(NM_001497.3):c.5G>C (p.R2T) - B4GALT1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.517G>A r.(?) p.(Val173Ile) Unknown - likely benign g.33135318C>T - B4GALT1(NM_001497.3):c.517G>A (p.V173I) - B4GALT1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.597C>T r.(=) p.(=) Unknown - VUS g.33135238G>A g.33135240G>A - - B4GALT1_000001 - PubMed: Almomani 2011 - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.686A>G r.(?) p.(Asn229Ser) Unknown - VUS g.33120567T>C g.33120569T>C B4GALT1(NM_001497.3):c.686A>G (p.(Asn229Ser)) - B4GALT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.714C>G r.(?) p.(Asp238Glu) Unknown - likely benign g.33120539G>C - B4GALT1(NM_001497.3):c.714C>G (p.D238E) - B4GALT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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