Full data view for gene B3GALT6

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_080605.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     

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     
+/+ 1 c.513_520del r.(?) p.(Glu174Alafs*266) frameshift deletion Unknown - pathogenic g.1168171_1168178del - - - B3GALT6_000011 - PubMed: Van Damme et al., 2018 - - Unknown - - - 0 - DNA SEQ-NG - - EDS, EDSSPD2 - PubMed: Van Damme et al., 2018 The technique used was the custom NGS Gene panel. - - United States USA - 0 - - 1 Sofie Symoens
+/+ 1 c.513_520del r.(?) p.(Glu174Alafs*266) frameshift deletion Unknown - pathogenic g.1168171_1168178del - - - B3GALT6_000011 - PubMed: Van Damme et al., 2018 - - Unknown - - - 0 - DNA PCR, SEQ - - EDS, EDSSPD2 - PubMed: Van Damme et al., 2018 - - - Netherlands Dutch - 0 - - 1 Sofie Symoens
+/+ 1 c.513_520del r.(?) p.(Glu174Alafs*266) frameshift deletion Unknown - pathogenic g.1168171_1168178del - - - B3GALT6_000011 - PubMed: Van Damme et al., 2018 - - Unknown - - - 0 - DNA SEQ-NG - - EDS, EDSSPD2 - PubMed: Van Damme et al., 2018 A non-consanguineous couple of Caucasian origin had two pregnancies terminated because of severe skeletal dysplasia. The second pregnancy was assigned the Patient ID AN_005849.The technique used was whole exome sequencing. - - Netherlands Dutch - 0 - - 1 Sofie Symoens
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