U.S. flag

An official website of the United States government

NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) 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:
RCV001827163.2

Allele description [Variation Report for NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)]

NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)

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.1115dup (p.Pro373fs)
Other names:
NP_001308049.1:p.(P373Sfs*14)
HGVS:
  • NC_000017.11:g.61482990dup
  • NG_008080.1:g.31545dup
  • NM_001321120.2:c.1115dupMANE SELECT
  • NM_018488.3:c.1112dup
  • NP_001308049.1:p.Pro373fs
  • NP_060958.2:p.Pro372fs
  • LRG_1206t1:c.1115dup
  • LRG_1206:g.31545dup
  • LRG_1206p1:p.Pro373fs
  • NC_000017.10:g.59560344_59560345insC
  • NC_000017.10:g.59560351dup
  • NM_001321120.1:c.1115dup
  • NM_018488.2:c.1112dupC
  • NM_018488.3:c.1106dup
  • NM_018488.3:c.1112dup
Protein change:
P372fs
Links:
dbSNP: rs754897911
NCBI 1000 Genomes Browser:
rs754897911
Molecular consequence:
  • NM_001321120.2:c.1115dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018488.3:c.1112dup - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
variation affecting protein [Variation Ontology: 0002]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002097172Wendy 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

Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension.

Wang XJ, Lian TY, Jiang X, Liu SF, Li SQ, Jiang R, Wu WH, Ye J, Cheng CY, Du Y, Xu XQ, Wu Y, Peng FH, Sun K, Mao YM, Yu H, Liang C, Shyy JY, Zhang SY, Zhang X, Jing ZC.

Eur Respir J. 2019 Mar 14;53(3). doi:pii: 1801609. 10.1183/13993003.01609-2018. Print 2019 Mar.

PubMed [citation]
PMID:
30578397

Details of each submission

From Wendy Chung Laboratory, Columbia University Medical Center, SCV002097172.1

#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