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.

5 entries on 1 page. Showing entries 1 - 5.
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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.235A>G r.(?) p.(Thr79Ala) missense substitution Maternal (inferred) - likely pathogenic g.1167893A>G - - - B3GALT6_000034 - PubMed: Honey et al., 2016 - - Unknown - - - 0 - DNA ? - - SEMDJL1 Family 1 PubMed: Honey et al., 2016 The patient had a brother who was also positive for both variants, and had a similar phenotype. - - South Africa Afrikaner - 0 - - 1 Raymond Dalgleish
+/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution Paternal (confirmed) - likely pathogenic g.1167893A>G - - - B3GALT6_000034 - PubMed: Honey et al., 2016 - - Unknown - - - 0 - DNA ? - - SEMDJL1 Family 2 PubMed: Honey et al., 2016 - - - - - - 0 - - 1 Raymond Dalgleish
+?/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution Both (homozygous) - likely pathogenic g.1167893A>G - - - B3GALT6_000034 - PubMed: Vorster et al., 2014 - - Unknown - - - 0 - DNA SEQ - - SEMDJL1 F3 PubMed: Vorster et al., 2014 - - - - - - 0 - - 1 Raymond Dalgleish
+?/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution Both (homozygous) - likely pathogenic g.1167893A>G - - - B3GALT6_000034 - PubMed: Vorster et al., 2014 - - Unknown - - - 0 - DNA SEQ - - SEMDJL1 F8 PubMed: Vorster et al., 2014 One unaffected parent's B3GALT6 gene was sequenced and shown to be heterozygous for c.235A>G. - - South Africa Afrikaner - 0 - - 1 Raymond Dalgleish
+?/+? 1 c.235A>G r.(?) p.(Thr79Ala) missense substitution Both (homozygous) - likely pathogenic g.1167893A>G - - - B3GALT6_000034 - PubMed: Vorster et al., 2014 - - Unknown - - - 0 - DNA SEQ - - SEMDJL1 F10 PubMed: Vorster et al., 2014 - - - South Africa Afrikaner - 0 - - 1 Raymond Dalgleish
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