LOVD - Variant listings for COL3A1

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Patient data (#0000489)
Patient ID Case 1
Disease EDS IV
Reference Pickup and Pollanen, 2010
Template Unknown
Technique Unknown
Remarks The patient had acute subarachnoid haemorrhage and mesenteric artery dissection.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 19
DNA change c.1258G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Gly420Ser
Legacy change Gly253Ser
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00228

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
+/+ Unknown 19 c.1258G>A - Substitution Missense p.Gly420Ser Gly253Ser - - - COL3A1_00228