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NM_017946.4(FKBP14):c.362dup (p.Glu122fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000415176.3

Allele description [Variation Report for NM_017946.4(FKBP14):c.362dup (p.Glu122fs)]

NM_017946.4(FKBP14):c.362dup (p.Glu122fs)

Genes:
FKBP14:FKBP prolyl isomerase 14 [Gene - OMIM - HGNC]
FKBP14-AS1:FKBP14 antisense RNA 1 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
7p14.3
Genomic location:
Preferred name:
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
Other names:
p.Glu122fs
HGVS:
  • NC_000007.14:g.30019115dup
  • NG_032173.1:g.12691dup
  • NM_017946.4:c.362dupMANE SELECT
  • NP_060416.1:p.Glu122fs
  • LRG_454t1:c.362dup
  • LRG_454:g.12691dup
  • NC_000007.13:g.30058726_30058727insG
  • NC_000007.13:g.30058731dup
  • NM_017946.2:c.362dupC
  • NM_017946.3:c.362dupC
  • NR_046478.2:n.648dup
  • NR_046479.2:n.404dup
  • p.Glu122Argfs*7
Protein change:
E122fs
Links:
OMIM: 614505.0001; dbSNP: rs542489955
NCBI 1000 Genomes Browser:
rs542489955
Molecular consequence:
  • NM_017946.4:c.362dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_046478.2:n.648dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_046479.2:n.404dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Congenital muscular dystrophy
Synonyms:
Congenital MD
Identifiers:
MONDO: MONDO:0019950; MedGen: C0699743
Name:
Joint hypermobility
Identifiers:
MedGen: C1844820; Human Phenotype Ontology: HP:0001382
Name:
Thoracolumbar scoliosis
Identifiers:
MedGen: C0749379; Human Phenotype Ontology: HP:0002944
Name:
Pes valgus
Identifiers:
MedGen: C1578482; Human Phenotype Ontology: HP:0008081
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000492576Centre for Mendelian Genomics, University Medical Centre Ljubljana
no assertion criteria provided
Pathogenic
(Feb 10, 2016) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV000492576.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024