| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0001859) |
| Patient ID |
V-2 |
| Disease |
ALGAZ |
| Reference |
Ben-Mahmoud et al., 2018 |
| Template |
DNA |
| Technique |
PCR, SEQ |
| Remarks |
This family was previously described in Al-Gazali et al., 1999. The proband had two siblings V-1, and V-2, who carried the same variants and phenotype. The authors of Ben-Mahmoud et al., 2018 suggest that Al-Gazali syndrome represents the more severe phenotype among B3GALT6-related diseases due to patients dying within the first few months of life. |
| Ethnic origin |
Palestinian |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Probably pathogenic |
| Exon |
01 |
| DNA change |
c.618C>G (View in UCSC Genome Browser, Ensembl) |
| dbSNP |
- |
| Type |
Substitution |
| Mutation Effect |
Missense |
| Protein |
p.Cys206Trp |
| RNA change |
- |
| Re-site |
- |
| Frequency |
- |
| DB-ID |
B3GALT6_00039 |
|
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