LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001581)
Patient ID AN_002585
Disease Vascular EDS
Reference Italy:Brescia
Template DNA
Technique PCR, SEQ
Remarks -
Ethnic origin Italian
Submitter Marco Ritelli, Marina Colombi

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 41i
DNA change c.2931+1G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Splice site
Protein -
Legacy change -
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00156

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
+/+ Maternal (inferred) 41i c.2931+1G>A - Substitution Splice site - - - - - COL3A1_00156