LOVD - Variant listings for COL1A2

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Patient data (#0003531)
Patient ID V001
Disease EDS
Reference E. Mornet, personal communication, France:Versailles
Template DNA
Technique CNGP
Remarks -
Ethnic origin -
Submitter Etienne Mornet

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 17
DNA change c.880G>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(Val294Phe)
Legacy change Val204Phe
RNA change -
Re-site -
DB-ID COL1A2_00639

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 17 c.880G>T - Substitution Missense p.(Val294Phe) Val204Phe - - COL1A2_00639