LOVD - Variant listings for B4GALT7

About this overview [Show]

Patient data (#0000879)
Patient ID
Disease LRS
Reference Cartault et al., 2014
Template DNA
Technique PCR, SEQ
Remarks The authors describe 22 cases displaying symptoms of Larson of Reunion Island syndrome each of whom is homzygous for the same variant. They estimate the mutant allele frequency to be 0.02 in the white creole ethnic group.
Ethnic origin White Creole

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
DNA change c.808C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Missense
Protein p.(Arg270Cys)
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00003

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
+/+ Maternal (inferred) 05 c.808C>T dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003
+/+ Paternal (inferred) 05 c.808C>T dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003