LOVD - Variant listings for COL5A1

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Patient data (#0001536)
Patient ID 011
Disease EDS I
Reference Junkiert-Czarnecka et al., 2019, Poland:Bydgoszcz
Template DNA
Technique SEQ
Remarks The patient's father harbours the same two sequence variants and has the same clinical picture. This is suggestive, but not conclusive, evidence that the EDS I phenotype is the result of the variants.
Ethnic origin Caucasian
Submitter Anna Junkiert-Czarnecka

Variant data
Allele Paternal (confirmed)
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

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 (confirmed) 02 c.193C>T - Substitution Missense p.Arg65Trp - - - COL5A1_00203
+/-? Paternal (confirmed) 04 c.514G>T - Substitution Missense p.Val172Phe - - - COL5A1_00204