LOVD - Variant listings for FKBP14

About this overview [Show]

Patient data (#0001833)
Patient ID
Disease FKBP14 kEDS
Reference Castori et al., 2019
Template DNA
Technique CNGP, SEQ
Remarks The patient (15F) was conceived via IVF and has an unaffected twin brother. Parents were not consanguineous.
Ethnic origin -

Variant data
Allele Paternal (confirmed)
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
+/+ Maternal (confirmed) 03 c.362dupC - Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001
+/+ Paternal (confirmed) 03 c.362dupC - Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001