LOVD - Variant listings for B4GALT7

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Patient data (#0001842)
Patient ID Patient 1
Disease Progeroid EDS
Reference Caraffi et al., 2019
Template DNA
Technique CNGP, PCR, SEQ
Remarks The patient was compound heterozygous for two variants.
Ethnic origin -

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 02
DNA change c.277dupC   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Frameshift
Protein p.His93Profs*73
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00005

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) 02 c.277dupC - Duplication Frameshift p.His93Profs*73 - - - B4GALT7_00005
+/+? Paternal (confirmed) 03 c.628C>T - Substitution Missense p.His210Tyr - - - B4GALT7_00006