LOVD - Variant listings for COL1A2

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Patient data (#0003600)
Patient ID
Disease OI I
Reference Kantaputra et al., 2018
Template DNA
Technique PCR, SEQ, WES
Remarks The affected father and daughter are both described as having OI type IV in the Abstract, but OI type I in the Discussion.
Ethnic origin Thai

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 25
DNA change c.1451G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Gly484Glu)
Legacy change Gly394Glu
RNA change -
Re-site -
DB-ID COL1A2_00054

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
+/+ Unknown 25 c.1451G>A dbSNP Substitution Missense p.(Gly484Glu) Gly394Glu - - COL1A2_00054