LOVD - Variant listings for COL1A1

About this overview [Show]

Patient data (#0003544)
Patient ID Case 16
Disease OI
Reference Chandler et al., 2018
Template DNA
Technique CNEP, PCR, SEQ
Remarks -
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 44
DNA change c.3132_3140del   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
ClinVar -
Type Deletion
Mutation effect In-frame deletion
Protein p.(Pro1045_Ala1047del)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A1_00339

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 44 c.3132_3140del dbSNP - Deletion In-frame deletion p.(Pro1045_Ala1047del) - - - COL1A1_00339