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.

4 entries on 1 page. Showing entries 1 - 4.
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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.694C>T r.(?) p.(Arg232Cys) missense substitution Parent #2 - likely pathogenic g.1168352C>T - - - B3GALT6_000029 - PubMed: Nakajima et al., 2013 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - SEMDJL1 Patient 1 PubMed: Nakajima et al., 2013 The patient had a sibling who was also compound heterozygous for both variants and had a similar phenotype.c.1A>G showed a decreased molecular weight ~4kD lower compared to the WT protein. The authors suggested that the translation initiation at the second ATG of the coding sequence (position c.124) would become the initiation codon, resulting in a protein change of p.Met1_Ala41del.The technique used was whole exome sequencing. - - Japan Japanese - 0 - - 1 Raymond Dalgleish
+?/+? 1 c.694C>T r.(?) p.(Arg232Cys) missense substitution Parent #2 - likely pathogenic g.1168352C>T - - - B3GALT6_000029 - PubMed: Nakajima et al., 2013 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - SEMDJL1 P5 PubMed: Nakajima et al., 2013 The authors predicted the c.1A>G variant would result in a 41 aa deletion due to the second ATG becoming the initiating codon. The technique used was whole exome sequencing. - - Japan Japanese - 0 - - 1 Raymond Dalgleish
+?/+? 1 c.694C>T r.(?) p.(Arg232Cys) missense substitution Parent #1 - likely pathogenic g.1168352C>T - - - B3GALT6_000029 - PubMed: Nakajima et al., 2013 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - SEMDJL1 P6 PubMed: Nakajima et al., 2013 The technique used was whole exome sequencing. - - Japan Japanese - 0 - - 1 Raymond Dalgleish
+?/+? 1 c.694C>T r.(?) p.(Arg232Cys) missense substitution Parent #1 - likely pathogenic g.1168352C>T - - - B3GALT6_000029 - PubMed: Nakajima et al., 2013 - - Unknown - - - 0 - DNA SEQ - - SEMDJL1 P8 PubMed: Nakajima et al., 2013 - - - Viet Nam Vietnamese - 0 - - 1 Raymond Dalgleish
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