LOVD - Variant listings for COL1A2

About this overview [Show]

Patient data (#0003523)
Patient ID AN_006101
Disease OI III
Reference United States:Houston
Template DNA
Technique Unknown
Remarks Amplification using captured base method. Amplified products sequenced using Illumina HiSeq 2000 platform. Mother and child both have a clinical diagnosis of severe type III OI.
Ethnic origin Caucasian
Submitter Myla Ashfaq

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 35
DNA change c.2108G>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(Gly703Val)
Legacy change Gly613Val
RNA change -
Re-site -
DB-ID COL1A2_00499

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) 35 c.2108G>T - Substitution Missense p.(Gly703Val) Gly613Val - - COL1A2_00499