Annotation Detail
Information
- Associated Genes
- FKBP14 FKBP14-AS1
- Associated Variants
-
FKBP14 p.Glu122ArgfsTer7 (p.E122Rfs*7)
(
ENST00000222803.10 )
FKBP14 p.Glu122ArgfsTer7 (p.E122Rfs*7) ( ENST00000222803.10 ) - Associated Disease
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- Source Database
- ClinVar
- Description
- NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- ClinVar Allele ID
- 264319
- ClinVar RefSeq Alternation Syntax
- NM_017946.4:c.362dup
- ClinVar RefSeq Alternation Syntax
- NR_046479.2:n.404dup
- ClinVar RefSeq Alternation Syntax
- NR_046478.2:n.648dup
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000533832
- ClinVar Disease
- Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- Observed Origin Sample
- germline
- Observed Origin Sample
- biparental
- Observed Origin Sample
- unknown
- Observed Origin Sample
- paternal
- Pubmed
- 27149304
- Pubmed
- 22265013
Drugs