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.16C>T r.(?) p.(Arg6Trp) - - Unknown - pathogenic (recessive) g.1167674C>T g.1232294C>T - - B3GALT6_000007 - - - - Unknown yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 1 c.16C>T r.(?) p.(Arg6Trp) missense substitution Parent #1 - likely pathogenic g.1167674C>T - - - B3GALT6_000007 - PubMed: Nakajima et al., 2013 - - Unknown - - - 0 - DNA SEQ - - EDS, EDSSPD1 P12 PubMed: Nakajima et al., 2013 - - - Brazil - - 0 - - 1 Raymond Dalgleish
+?/+? 1 c.16C>T r.(?) p.(Arg6Trp) missense substitution Unknown - likely pathogenic g.1167674C>T - - - B3GALT6_000007 - PubMed: Vorster et al., 2014 - - Unknown - - - 0 - DNA SEQ - - SEMDJL1 F1 PubMed: Vorster et al., 2014 The patient had an unaffected sibling who only carried the c.16C>T variant. - - South Africa Afrikaner - 0 - - 1 Raymond Dalgleish
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