LOVD - Variant listings for B3GALT6

About this overview [Show]

Patient data (#0001500)
Patient ID P9
Disease Progeroid EDS
Reference Nakajima et al., 2013
Template DNA
Technique SEQ
Remarks This patient was further described in Caraffi et al., 2019
Ethnic origin Italy

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
DNA change c.353delA   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Nonsense
Protein p.Asp118Alafs*160
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00004

2 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
+/+ Parent #1 01 c.353delA - Deletion Nonsense p.Asp118Alafs*160 - - - B3GALT6_00004
+/+? Parent #2 01 c.925T>A - Substitution Missense p.Ser309Thr - - - B3GALT6_00005