LOVD - Variant listings for COL1A2

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Patient data (#0003539)
Patient ID Case 8
Disease OI IV
Reference Chandler et al., 2018
Template DNA
Technique CNEP, PCR, SEQ
Remarks -
Ethnic origin -

Variant data
Allele Maternal (confirmed)
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

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
+/+ Maternal (confirmed) 43i c.2835+1G>A dbSNP Substitution Splice site - - - - COL1A2_00276