LOVD - Variant listings for COL5A2

About this overview [Show]

Patient data (#0001789)
Patient ID
Disease TAAD
Reference Weerakkody et al., 2018
Template DNA
Technique CNGP, PCR, SEQ
Remarks -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Pathogenic
Exon 12
DNA change c.808G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Legacy DNA change -
Type Substitution
Mutation Effect Missense
Protein p.Gly270Ser
RNA change -
Re-site -
Frequency -
DB-ID COL5A2_00063

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 12 c.808G>A - - Substitution Missense p.Gly270Ser - - - COL5A2_00063