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.

7 entries on 1 page. Showing entries 1 - 7.
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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     

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Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 1 c.556T>C r.(?) p.(Phe186Leu) missense substitution Both (homozygous) - pathogenic g.1168214T>C - - - B3GALT6_000023 - PubMed: Alazami et al., 2016 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - EDS, EDSSPD2 Family 6 PubMed: Alazami et al., 2016 The proband has an affected cousin.The formal ID for this family is 12DG0715.The technique used was whole exome sequencing. - - - - - 0 - - 1 Raymond Dalgleish
+/+ 1 c.556T>C r.(?) p.(Phe186Leu) missense substitution Both (homozygous) - pathogenic g.1168214T>C - - - B3GALT6_000023 - PubMed: Alazami et al., 2016 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - EDS, EDSSPD2 Family 7 PubMed: Alazami et al., 2016 There are two affected individuals in this family.The formal ID for this family is 12DG1291.The technique used was whole genome sequencing. - - - - - 0 - - 1 Raymond Dalgleish
+/+ 1 c.556T>C r.(?) p.(Phe186Leu) missense substitution Both (homozygous) - pathogenic g.1168214T>C - - - B3GALT6_000023 - PubMed: Alazami et al., 2016 - - Unknown - - - 0 - DNA SEQ, SEQ-NG - - EDS, EDSSPD2 Family 8 PubMed: Alazami et al., 2016 The formal ID for this family is 12DG2397.The technique used was whole genome sequencing. - - - - - 0 - - 1 Raymond Dalgleish
+/. - c.556T>C r.(?) p.(Phe186Leu) - - Both (homozygous) - pathogenic (recessive) g.1168214T>C g.1232834T>C NM_080605.3:c.556T>C:p.(Phe186Leu) - B3GALT6_000023 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG0715 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
+/. - c.556T>C r.(?) p.(Phe186Leu) - - Both (homozygous) - pathogenic (recessive) g.1168214T>C g.1232834T>C NM_080605.3:c.556T>C:p.(Phe186Leu) - B3GALT6_000023 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1291, 12DG1024 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - 0 - - 2 LOVD
+/. - c.556T>C r.(?) p.(Phe186Leu) - - Both (homozygous) - pathogenic (recessive) g.1168214T>C g.1232834T>C NM_080605.3:c.556T>C:p.(Phe186Leu) - B3GALT6_000023 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2397 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - 1 LOVD
+/. - c.556T>C r.(?) p.(Phe186Leu) - - Both (homozygous) - pathogenic (recessive) g.1168214T>C g.1232834T>C NM_080605.3:c.556T>C:p.(Phe186Leu) - B3GALT6_000023 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1024 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - 1 LOVD
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