LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0001289)
Patient ID AN_003646
Disease EDS IV
Reference Pepin et al., 2014, United States:Seattle
Template DNA, RNA
Technique PCR, RT-PCR, SEQ
Remarks -
Ethnic origin -
Submitter Peter Byers

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 49
DNA change c.3544G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Gly1182Arg
Legacy change Gly1015Arg
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00574

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
+/+ Paternal (inferred) 49 c.3544G>A - Substitution Missense p.Gly1182Arg Gly1015Arg - - - COL3A1_00574