LOVD - Variant listings for COL5A1

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Patient data (#0001786)
Patient ID
Disease EDS
Reference Fokstuen et al., 2016
Template DNA
Technique SEQ, WES
Remarks Given that the variant is in COL5A1, this is probably a case of classical EDS.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 24
DNA change c.2203dupC   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Frameshift
Protein p.Gln735Profs*25
RNA change -
Re-site -
Frequency -
DB-ID COL5A1_00256

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 24 c.2203dupC - Duplication Frameshift p.Gln735Profs*25 - - - COL5A1_00256