LOVD - Variant listings for COL5A2

About this overview [Show]

Patient data (#0001799)
Patient ID III-1
Disease Artery dissections
Reference Martin et al., 2006
Template DNA
Technique PCR, RT-PCR, SEQ
Remarks The variant was only published with the amino acid changes as T1227S, using NM_000393.2. The DNA change was deduced, and the amino acid change been corrected to T1230S, with reference to NM_000393.4.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 51
DNA change c.3688A>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Legacy DNA change -
Type Substitution
Mutation Effect Missense
Protein p.Thr1230Ser
RNA change -
Re-site -
Frequency -
DB-ID COL5A2_00068

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 51 c.3688A>T - - Substitution Missense p.Thr1230Ser - - - COL5A2_00068