LOVD - Variant listings for COL5A2

About this overview [Show]

Patient data (#0001800)
Patient ID P25
Disease -
Reference Grelet et al., 2019
Template DNA
Technique CNGP, PCR, SEQ
Remarks This patient was diagnosed with an unspecified progeroid syndrome, having a phenotype consistent with accelerated ageing without a specific nosological(disease) classification.

Human splicing finder predicted a potential alteration of splicing for the variant in COL5A2. The patient also carried a variant in the SYNE2 gene.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 07
DNA change c.463C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Legacy DNA change -
Type Substitution
Mutation Effect Missense
Protein p.Arg155Cys
RNA change -
Re-site -
Frequency -
DB-ID COL5A2_00069

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 07 c.463C>T - - Substitution Missense p.Arg155Cys - - - COL5A2_00069