LOVD - Variant listings for COL5A1

About this overview [Show]

Patient data (#0001773)
Patient ID
Disease Artery dissections, EDS III
Reference Emanuela et al., 2019
Template DNA
Technique Unknown
Remarks The patient has a daughter who was diagnosed for EDS hypermobility type. The patient is also diagnosed with hEDS due to flower-like collagen fibers, variable collagen fiber diameters, irregular interfiber spacing, and relatives diagnosed with hEDS/
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 06
DNA change c.791C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Thr264Met
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00255

1 entry in COL5A1

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
+/+? Unknown 06 c.791C>T - Substitution Missense p.Thr264Met - - - COL5A1_00255