LOVD - Variant listings for COL1A2

About this overview [Show]

Patient data (#0004261)
Patient ID EE30
Disease OI III/IV
Reference Zhytnik et al., 2017, Estonia:Tartu
Template DNA
Technique SEQ
Remarks -
Ethnic origin Estonian
Submitter Lidiia Zhytnik

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 33i_34
DNA change c.2026-1_2031dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation effect Frameshift
Protein (p.Pro678Glyfs*17)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A2_00729

1 entry in COL1A2

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
DB-ID Descending
Ascending
+/+ Unknown 33i_34 c.2026-1_2031dup - Duplication Frameshift (p.Pro678Glyfs*17) - - - COL1A2_00729