LOVD - Variant listings for COL1A1

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Patient data (#0003521)
Patient ID Case 1
Disease OI III
Reference Kloen et al., 2018
Template DNA
Technique SEQ
Remarks The proband's younger brother also harbours the same variant and also has OI type III.
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 37
DNA change c.2461G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
ClinVar -
Type Substitution
Mutation effect Missense
Protein p.(Gly821Ser)
Legacy change Gly643Ser
RNA change -
Re-site -
DB-ID COL1A1_00147

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
+/+ Unknown 37 c.2461G>A dbSNP - Substitution Missense p.(Gly821Ser) Gly643Ser - - COL1A1_00147