LOVD - Variant listings for COL5A2

About this overview [Show]

Patient data (#0001801)
Patient ID
Disease -
Reference Chen et al., 2020
Template DNA
Technique CNGP, PCR, SEQ
Remarks Although EDS is associated with low bone mineral density (BMD), this COL5A2 variant was found to be recurrent in a high BMD group.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 29
DNA change c.1976C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Legacy DNA change -
Type Substitution
Mutation Effect Missense
Protein p.Pro659Leu
RNA change -
Re-site -
Frequency -
DB-ID COL5A2_00070

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 29 c.1976C>T - - Substitution Missense p.Pro659Leu - - - COL5A2_00070