LOVD - Variant listings for B4GALT7

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Patient data (#0001865)
Patient ID
Disease spEDS
Reference Sandler-Wilson et al., 2019
Template DNA
Technique SEQ, WES
Remarks The patient had a female sibling who also carried both variants and was diagnosed with spEDS.
Ethnic origin Partly French

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 03
DNA change c.421C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Arg141Trp
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00010

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 (confirmed) 03 c.421C>T - Substitution Missense p.Arg141Trp - - - B4GALT7_00010
+/+? Paternal (confirmed) 05 c.808C>T dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003