LOVD - Variant listings for B4GALT7

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Patient data (#0000852)
Patient ID Patient 1
Disease Progeroid EDS
Reference Faiyaz-Ul-Haque et al., 2004
Template DNA
Technique PCR, SEQ
Remarks The parents of this patient are first cousins. This patient's paternal uncle is also affected by Progeroid EDS and harbours the same two variants.
This patient was subsequently described by Walker et al., 2004 and by Seidler et al., 2006.
Ethnic origin Qatari

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