LOVD - Variant listings for COL5A2

About this overview [Show]

Patient data (#0001806)
Patient ID TAAD046 II:1
Disease AAD
Reference Fang et al., 2017
Template DNA
Technique CNGP
Remarks The variant is probably benign as the patient's grandson was also found to carry the variant but not display the phenotype.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Probably no pathogenicity
Exon 42
DNA change c.2846C>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Legacy DNA change -
Type Substitution
Mutation Effect Missense
Protein p.Ser949Cys
RNA change -
Re-site -
Frequency -
DB-ID COL5A2_00071

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 42 c.2846C>G - - Substitution Missense p.Ser949Cys - - - COL5A2_00071