LOVD - Variant listings for B4GALT7

About this overview [Show]

Patient data (#0001862)
Patient ID Patient 1
Disease LRS
Reference Salter et al., 2016
Template DNA
Technique SEQ, WES
Remarks The authors argued that this patient lies on the spectrum of Larson of Reunion Island Syndrome. It is important to note that the patient fulfils all the major criteria and 4/5 minor criteria for spEDS in the 2017 classification.
Ethnic origin -

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 04
DNA change c.641G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Cys214Tyr
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00009

2 entries in B4GALT7

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) 02 c.277dupC - Duplication Frameshift p.His93Profs*73 - - - B4GALT7_00005
+/+? Maternal (confirmed) 04 c.641G>A - Substitution Missense p.Cys214Tyr - - - B4GALT7_00009