LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001811)
Patient ID Patient 5
Disease Vascular EDS
Reference Busch et al., 2016
Template DNA
Technique Unknown
Remarks The patient is a 43 year-old male. A younger male relative also carries the same variant and vEDS phenotype.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 15
DNA change c.973G>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Ala325Ser
Legacy change Ala158Ser
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00752

1 entry in COL3A1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
Legacy change Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
-/- Unknown 15 c.973G>T - Substitution Missense p.Ala325Ser Ala158Ser - - - COL3A1_00752