LOVD - Variant listings for COL5A2

About this overview [Show]

Patient data (#0001792)
Patient ID
Disease AAD
Reference Ma et al., 2019
Template DNA
Technique SEQ
Remarks This variant was classified as benign according to bioinformatic analysis with SIFT and PolyPhen2. The variant was incorrectly described as c.587G > T in Ma et al., 2019.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 08
DNA change c.587C>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Legacy DNA change -
Type Substitution
Mutation Effect Missense
Protein p.Ala196Asp
RNA change -
Re-site -
Frequency -
DB-ID COL5A2_00065

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 08 c.587C>A - - Substitution Missense p.Ala196Asp - - - COL5A2_00065