LOVD - Variant listings for B4GALT7

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Patient data (#0001864)
Patient ID
Disease Progeroid EDS
Reference Guo et al., 2013
Template DNA
Technique SEQ, WES
Remarks The patient was diagnosed with Progeroid EDS, with the authors arguing for the reclassification of Progeroid EDS due to its initial focus on progeroid features in patients that were not sequenced. The patient meets all the major criteria and 3/5 minor criteria for spEDS as described in the 2017 classification. This patient was later described in Guo et al., 2014 as Patient P02.
Ethnic origin -

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 02
DNA change c.122T>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.(Leu41Pro)
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00004

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.122T>C - Substitution Missense p.(Leu41Pro) - - - B4GALT7_00004
+/+ Maternal (confirmed) 05 c.808C>T dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003