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NM_001321120.2(TBX4):c.113dup (p.Leu39fs) AND Coxopodopatellar syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001829333.2

Allele description [Variation Report for NM_001321120.2(TBX4):c.113dup (p.Leu39fs)]

NM_001321120.2(TBX4):c.113dup (p.Leu39fs)

Gene:
TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_001321120.2(TBX4):c.113dup (p.Leu39fs)
HGVS:
  • NC_000017.11:g.61456603dup
  • NG_008080.1:g.5158dup
  • NM_001321120.2:c.113dupMANE SELECT
  • NM_018488.3:c.113dup
  • NP_001308049.1:p.Leu39fs
  • NP_060958.2:p.Leu39fs
  • LRG_1206t1:c.113dup
  • LRG_1206:g.5158dup
  • LRG_1206p1:p.Leu39fs
  • NC_000017.10:g.59533964dup
Protein change:
L39fs
Links:
dbSNP: rs2143792404
NCBI 1000 Genomes Browser:
rs2143792404
Molecular consequence:
  • NM_001321120.2:c.113dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018488.3:c.113dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Coxopodopatellar syndrome
Synonyms:
Ischiopatellar dysplasia; Scott-Taor syndrome; ISCHIOCOXOPODOPATELLAR SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007841; MedGen: C1840061; Orphanet: 1509; OMIM: 147891

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002097153Wendy Chung Laboratory, Columbia University Medical Center
no classification provided
not providedunknownliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A Novel Heterozygous Mutation in the T-box Protein 4 Gene in an Adult Case of Small Patella Syndrome.

Oda T, Matsushita M, Ono Y, Kitoh H, Sakai T.

J Orthop Case Rep. 2018 Jan-Feb;8(1):85-88. doi: 10.13107/jocr.2250-0685.1012.

PubMed [citation]
PMID:
29854702
PMCID:
PMC5974686

Details of each submission

From Wendy Chung Laboratory, Columbia University Medical Center, SCV002097153.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023