LOVD - Variant listings for COL3A1

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Patient data (#0001779)
Patient ID IVAD49
Disease Artery dissections
Reference Wang et al., 2018
Template DNA
Technique PCR, SEQ, WES
Remarks The patient was diagnosed with intracranial vertebral-basilar artery dissection (IVAD).
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity No known pathogenicity
Exon 26i
DNA change c.1815+5G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Splice site
Protein -
Legacy change -
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00277

2 entries 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 26i c.1815+5G>A dbSNP Substitution Splice site - - - - - COL3A1_00277
-/- Unknown 44 c.3133G>A - Substitution Missense p.Ala1045Thr Ala878Thr - - - COL3A1_00747