LOVD - Variant listings for FKBP14

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Patient data (#0001493)
Patient ID
Disease EDS FKBP22
Reference Dordoni et al. 2016
Template DNA
Technique PCR, SEQ
Remarks Typographical error in 'Molecular Characterization' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data.
Ethnic origin Italy

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03
DNA change c.362dupC   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Frameshift
Protein p.(Glu122Argfs*7)
RNA change -
Re-site -
Frequency -
DB-ID FKBP14_00001

2 entries in FKBP14

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+/+ Paternal (inferred) 03 c.362dupC - Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001
+/+? Maternal (inferred) 04 c.573_575del - Deletion In-frame deletion p.Glu191del - - - FKBP14_00003