LOVD - Variant listings for FKBP10

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Patient data (#0003184)
Patient ID AN_005833
Disease OI XI
Reference Essawi et al., 2018, Belgium:Ghent
Template DNA, RNA, Protein
Technique PCR, RT-PCR, SEQ, Western
Remarks This variant was identified in 8 affected members of the same family. The variant causes a skip of exon 2.

This patient might be related to patient AN_005834 who is homozygous for the same variant and is also from the same city.
Ethnic origin Palestinian
Submitter Sofie Symoens

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 02i
DNA change c.391+4A>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Splice site
Protein -
RNA change -
Re-site -
DB-ID FKBP10_00031

2 entries in FKBP10

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
DB-ID Descending
Ascending
+/+ Maternal (inferred) 02i c.391+4A>T - Substitution Splice site - - - FKBP10_00031
+/+ Paternal (inferred) 02i c.391+4A>T - Substitution Splice site - - - FKBP10_00031