LOVD - Variant listings for COL1A1

About this overview [Show]

Patient data (#0003545)
Patient ID OI0001
Disease OI I
Reference United Kingdom (Great Britain):Cambridge
Template DNA
Technique SEQ
Remarks -
Ethnic origin -
Submitter Ken Poole

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 49
DNA change c.3755G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
ClinVar -
Type Substitution
Mutation effect Missense
Protein p.(Arg1252His)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A1_01070

2 entries 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
+/+ Paternal (confirmed) 26 c.1800del - - Deletion Frameshift p.(Gly602Aspfs*164) - - - COL1A1_01069
-/- Unknown 49 c.3755G>A - - Substitution Missense p.(Arg1252His) - - - COL1A1_01070