LOVD - Variant listings for COL3A1

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Patient data (#0000183)
Patient ID AN_003391
Disease EDS IV
Reference Schwarze et al., 1997 Pepin et al., 2014, United States:Seattle
Template DNA, RNA
Technique PCR, RT-PCR, SEQ
Remarks Described by Schwarze et al., 1997 as patient 96-474 and also included in the study by Pepin et al., 2000.

Results in skipping of exon 28.
Ethnic origin -
Submitter Peter Byers

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 28i
DNA change c.1923+1G>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Splice site
Protein -
Legacy change -
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00149

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 28i c.1923+1G>C - Substitution Splice site - - - - - COL3A1_00149