LOVD - Variant listings for COL1A2

About this overview [Show]

Patient data (#0003548)
Patient ID OI0004
Disease OI IV
Reference United Kingdom (Great Britain):Cambridge
Template DNA
Technique SEQ
Remarks -
Ethnic origin -
Submitter Ken Poole

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 08
DNA change c.371G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Gly124Asp)
Legacy change Gly34Asp
RNA change -
Re-site -
DB-ID COL1A2_00002

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 (inferred) 08 c.371G>A dbSNP Substitution Missense p.(Gly124Asp) Gly34Asp - - COL1A2_00002