LOVD - Variant listings for B4GALT7

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Patient data (#0001866)
Patient ID
Disease spEDS
Reference Mosher et al., 2019
Template DNA
Technique CNGP, SEQ, WES
Remarks The patient displayed characteristics of spEDS and skeletal dysplasia. They were the only live born child out of three pregnancies from healthy parents. The other pregnancies displayed cystic hygroma and resulted in spontaneous abortion.
Ethnic origin -

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 02
DNA change c.398A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Gln133Arg
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00011

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.398A>G - Substitution Missense p.Gln133Arg - - - B4GALT7_00011
+/+ Maternal (confirmed) 05 c.808C>T dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003