LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001785)
Patient ID
Disease DAD
Reference Olson et al., 2019
Template DNA
Technique CNGP, SEQ
Remarks The authors hypothesize that this variant results in COL3A1 haploinsufficiency contributing to a less severe form of vEDS due to the lack of minor EDS characteristics and vessel or hollow organ rupture.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 46
DNA change c.3257_3266del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect Frameshift
Protein p.Gly1086Alafs*147
Legacy change Gly919Alafs*147
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00750

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 46 c.3257_3266del - Deletion Frameshift p.Gly1086Alafs*147 Gly919Alafs*147 - - - COL3A1_00750