LOVD - Variant listings for FKBP14

About this overview [Show]

Patient data (#0001489)
Patient ID P4
Disease EDS FKBP22
Reference Baumann et al., 2012
Template DNA
Technique PCR, SEQ, SeqArray
Remarks This patient was later described in more detail in Bursztejn et al., 2017 focusing on their cutaneous phenotype.
Ethnic origin France

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
+/+ Maternal (inferred) 03 c.362dupC - Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001
+/+ Paternal (inferred) 03 c.362dupC - Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001