LOVD - Variant listings for COL3A1

About this overview [Show]

Patient data (#0000570)
Patient ID P.14
Disease EDS IV
Reference Drera et al., 2011
Template DNA
Technique PCR, SEQ
Remarks In additon to the causal p.Gly912Ala variant, the patient also harbours the c.1804C>A (p.Pro602Thr) polymorphism and the c.1550C>T (p.Pro517Leu) variant. Segregation analysis of the patient's family suggests that the two variants, when combined with the p.G912A mutation, might increase the severity of the phenotype.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Probably no pathogenicity
Exon 26
DNA change c.1804C>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation Effect Missense
Protein p.Pro602Thr
Legacy change Pro435Thr
RNA change -
Re-site -
Frequency -
DB-ID COL3A1_00197

3 entries in COL3A1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
Legacy change Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
-?/-? Unknown 23 c.1550C>T - Substitution Missense p.Pro517Leu Pro350Leu - - - COL3A1_00269
-?/-? Unknown 26 c.1804C>A dbSNP Substitution Missense p.Pro602Thr Pro435Thr - - - COL3A1_00197
+/+ Unknown 40 c.2735G>C - Substitution Missense p.Gly912Ala Gly745Ala - - - COL3A1_00268