LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001809)
Patient ID Patient 2
Disease Vascular EDS
Reference Busch et al., 2016
Template DNA
Technique Unknown
Remarks Patient is a 45 year old female. The patient's mother and sister both had lethal internal bleeding.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Pathogenic
Exon 48
DNA change c.3508G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Gly1170Ser
Legacy change Gly1003Ser
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00273

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 48 c.3508G>A - Substitution Missense p.Gly1170Ser Gly1003Ser - - - COL3A1_00273