LOVD - Variant listings for COL1A1

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Patient data (#0003570)
Patient ID IV-3
Disease OI I
Reference Duan et al., 2018
Template DNA
Technique PCR, SEQ
Remarks The pathogenic variant in this patient was previously incorrectly identified as c.[440_441insT;c.441_442insA] Duan et al., 2016, and this was later disputed Dalgleish 2018.
Ethnic origin Chinese

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 18
DNA change c.1186G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
ClinVar -
Type Substitution
Mutation effect Missense
Protein p.(Ala396Thr)
Legacy change Ala218Thr
RNA change -
Re-site -
DB-ID COL1A1_01078

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
+/+? Paternal (inferred) 18 c.1186G>A - - Substitution Missense p.(Ala396Thr) Ala218Thr - - COL1A1_01078