LOVD - Variant listings for COL5A1

About this overview [Show]

Patient data (#0001782)
Patient ID Patient 54
Disease Classical EDS
Reference Lein√łe et al., 2017
Template DNA
Technique WES
Remarks -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 02
DNA change c.193C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Arg65Trp
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00203

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 02 c.193C>T - Substitution Missense p.Arg65Trp - - - COL5A1_00203