LOVD - Variant listings for COL5A1

About this overview [Show]

Patient data (#0001535)
Patient ID 089
Disease EDS I
Reference Poland:Bydgoszcz
Template DNA
Technique SEQ
Remarks -
Ethnic origin Caucasian
Submitter Anna Junkiert-Czarnecka

Variant data
Allele Paternal (inferred)
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 30
DNA change c.2588A>T   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Missense
Protein p.Glu863Val
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00202

2 entries 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
-/- Paternal (inferred) 30 c.2588A>T dbSNP Substitution Missense p.Glu863Val - - - COL5A1_00202
+?/+? Paternal (inferred) 43 c.3418G>A - Substitution Missense p.Val1140Met - - - COL5A1_00201