LOVD - Variant listings for B3GALT6

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Patient data (#0001843)
Patient ID Patient 3
Disease Progeroid EDS
Reference Caraffi et al., 2019
Template DNA
Technique CNGP, PCR, SEQ
Remarks The patient was the second child of non-consanguineous parents. Three variants were detected, and variant c.308C>T was described as a variant of uncertain significance.
Ethnic origin -

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.987_989delCTG   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Frameshift
Protein p.*330Alaext*72
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00027

3 entries in B3GALT6

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
-/- Paternal (confirmed) 01 c.308C>T - Substitution Missense p.Ala103Val - - - B3GALT6_00026
+/+ Paternal (confirmed) 01 c.353delA - Deletion Nonsense p.Asp118Alafs*160 - - - B3GALT6_00004
+?/+? Maternal (confirmed) 01 c.987_989delCTG - Deletion Frameshift p.*330Alaext*72 - - - B3GALT6_00027