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The B4GALT7 mutation data have been added to a new database.

LOVD - Variant listings for B4GALT7

About this overview [Show]

Patient data (#0000851)
Patient ID
Disease Progeroid EDS
Reference Okajima et al., 1999 Almeida et al., 1999
Template DNA
Technique PCR, SEQ
Remarks This patient was previously described by Kresse et al., 1987 and Quentin et al., 1990; and subsequently described by Furukawa and Okajima, 2002 and Gotte et al., 2005.
Ethnic origin Danish

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03
DNA change c.617T>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.(Leu206Pro)
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00002

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.557C>A - Substitution Missense p.(Ala186Asp) - - - B4GALT7_00001
+/+ Paternal (confirmed) 03 c.617T>C - Substitution Missense p.(Leu206Pro) - - - B4GALT7_00002