LOVD - Variant listings for COL1A2

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Patient data (#0003586)
Patient ID Patient 29
Disease OI I
Reference Rolvien et al., 2018
Template DNA
Technique PAGE, SEQ
Remarks The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien.

The variant detected in this patient is probably not pathogeneic as it has been found in 1 of 289 Asian individuals studied by the 1000 Genomes project and in 1 of 585 European individuals studied by the NHLBI Exome Sequencing Project (ESP).
Ethnic origin -

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably no pathogenicity
Exon 49
DNA change c.3313G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP dbSNP
Type Substitution
Mutation effect Missense
Protein p.(Gly1105Ser)
Legacy change -
RNA change -
Re-site -
DB-ID COL1A2_00394

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 49 c.3313G>A dbSNP Substitution Missense p.(Gly1105Ser) - - - COL1A2_00394