LOVD - Variant listings for COL1A1

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Patient data (#0001286)
Patient ID A7
Disease OI II
Reference Bodian et al., 2009, United States:Seattle
Template DNA
Technique PCR, SEQ
Remarks -
Ethnic origin -
Submitter Peter Byers

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity No known pathogenicity
Exon 18
DNA change c.1168G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
ClinVar -
Type Substitution
Mutation effect Missense
Protein p.(Ala390Thr)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A1_00482

2 entries 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 18 c.1168G>A - - Substitution Missense p.(Ala390Thr) - - - COL1A1_00482
+/+ Unknown 32 c.2218G>C - - Substitution Missense p.(Gly740Arg) Gly562Arg - - COL1A1_00481