LOVD - Variant listings for COL5A2

About this overview [Show]

Patient data (#0001807)
Patient ID TAAD054
Disease AAD
Reference Fang et al., 2017
Template DNA
Technique CNGP
Remarks The patient was diagnosed with aortic aneurysm and rupture. The authors determined this to be a 'variant of unknown significance'.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 48
DNA change c.3388A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Legacy DNA change -
Type Substitution
Mutation Effect Missense
Protein p.Lys1130Glu
RNA change -
Re-site -
Frequency -
DB-ID COL5A2_00072

1 entry in COL5A2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Legacy DNA change 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 48 c.3388A>G - - Substitution Missense p.Lys1130Glu - - - COL5A2_00072