LOVD - Variant listings for COL1A1

About this overview [Show]

Patient data (#0003568)
Patient ID Patient 12
Disease OI IV
Reference Rolvien et al., 2018
Template DNA
Technique PCR, SEQ
Remarks The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 38
DNA change c.2612delC   (View in UCSC Genome Browser, Ensembl)
dbSNP -
ClinVar -
Type Deletion
Mutation effect Frameshift
Protein p.(Pro871Leufs*237)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A1_00455

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 38 c.2612delC - - Deletion Frameshift p.(Pro871Leufs*237) - - - COL1A1_00455