LOVD - Variant listings for COL1A1

About this overview [Show]

Patient data (#0003525)
Patient ID
Disease OI IV
Reference Gardner et al., 2018, United Kingdom (Great Britain):Birmingham
Template DNA
Technique Unknown
Remarks -
Ethnic origin -
Submitter Nick Shaw

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 08
DNA change c.608G>T   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
ClinVar -
Type Substitution
Mutation effect Missense
Protein p.(Gly203Val)
Legacy change Gly25Val
RNA change -
Re-site -
DB-ID COL1A1_00009

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 08 c.608G>T dbSNP - Substitution Missense p.(Gly203Val) Gly25Val - - COL1A1_00009