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NM_001321120.2(TBX4):c.143dup (p.Pro50fs) AND Pulmonary hypertension, primary, 1

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:
RCV001829371.2

Allele description [Variation Report for NM_001321120.2(TBX4):c.143dup (p.Pro50fs)]

NM_001321120.2(TBX4):c.143dup (p.Pro50fs)

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.143dup (p.Pro50fs)
HGVS:
  • NC_000017.11:g.61456633dup
  • NG_008080.1:g.5188dup
  • NM_001321120.2:c.143dupMANE SELECT
  • NM_018488.3:c.143dup
  • NP_001308049.1:p.Pro50fs
  • NP_060958.2:p.Pro50fs
  • LRG_1206t1:c.143dup
  • LRG_1206:g.5188dup
  • LRG_1206p1:p.Pro50fs
  • NC_000017.10:g.59533994dup
Protein change:
P50fs
Links:
dbSNP: rs1414958198
NCBI 1000 Genomes Browser:
rs1414958198
Molecular consequence:
  • NM_001321120.2:c.143dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018488.3:c.143dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pulmonary hypertension, primary, 1 (PPH1)
Identifiers:
MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002097202Wendy 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

Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.

Eyries M, Montani D, Nadaud S, Girerd B, Levy M, Bourdin A, Trésorier R, Chaouat A, Cottin V, Sanfiorenzo C, Prevot G, Reynaud-Gaubert M, Dromer C, Houeijeh A, Nguyen K, Coulet F, Bonnet D, Humbert M, Soubrier F.

Eur Respir J. 2019 Mar 14;53(3). doi:pii: 1801371. 10.1183/13993003.01371-2018. Print 2019 Mar.

PubMed [citation]
PMID:
30578383

Details of each submission

From Wendy Chung Laboratory, Columbia University Medical Center, SCV002097202.1

#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: Sep 29, 2024