LOVD - Variant listings for FKBP14

About this overview [Show]

Patient data (#0001834)
Patient ID Case 2
Disease -
Reference Volozonoka et al., 2020
Template DNA
Technique CNGP
Remarks The patient (37F) presented with a diagnosis and/or history of cervical insufficiency, a leading cause of preterm birth.
Ethnic origin Caucasian

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 04
DNA change c.496_498del   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Deletion
Mutation Effect In-frame deletion
Protein p.Lys166del
RNA change -
Re-site -
Frequency -
DB-ID FKBP14_00008

1 entry 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
-/- Unknown 04 c.496_498del - Deletion In-frame deletion p.Lys166del - - - FKBP14_00008