LOVD - Variant listings for COL1A2

About this overview [Show]

Patient data (#0002808)
Patient ID AN_004994
Disease OI IVB
Reference Lindahl et al., 2015, Sweden:Uppsala
Template DNA
Technique PCR, SEQ
Remarks It is not known if the c.1268G>A variant influences the phenotype.
Ethnic origin Swedish
Submitter Katarina Lindahl

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 43i
DNA change c.2835+1G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation effect Splice site
Protein -
Legacy change -
RNA change -
Re-site -
DB-ID COL1A2_00276

2 entries 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
-/-? Maternal (confirmed) 23 c.1268G>A - Substitution Missense p.Arg423His - - - COL1A2_00290
+/+ Unknown 43i c.2835+1G>A dbSNP Substitution Splice site - - - - COL1A2_00276