LOVD - Variant listings for COL1A1

About this overview [Show]

Patient data (#0003537)
Patient ID V007
Disease OI
Reference France:Versailles
Template DNA
Technique CNGP
Remarks OI severe type. De novo mutation
Ethnic origin -
Submitter Etienne Mornet

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 52
DNA change c.4249_4250delAG   (View in UCSC Genome Browser, Ensembl)
dbSNP -
ClinVar -
Type Deletion
Mutation effect Frameshift
Protein p.(Thr1419Argfs*9)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A1_01067

1 entry in COL1A1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
ClinVar Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
Legacy change Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
+/+ Unknown 52 c.4249_4250delAG - - Deletion Frameshift p.(Thr1419Argfs*9) - - - COL1A1_01067