NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000488551.1

Allele description [Variation Report for NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)]

NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Inversion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)
Other names:
NP_000011.2:p.R218P
HGVS:
  • NC_000012.12:g.51914466_51914467inv
  • NG_009549.1:g.12049_12050inv
  • NM_001077401.2:c.653_654inv
  • NP_001070869.1:p.Arg218Pro
  • LRG_543t1:c.653_654inv
  • LRG_543:g.12049_12050inv
  • LRG_543p1:p.Arg218Pro
  • NC_000012.11:g.52308250_52308251inv
Protein change:
R218P
Molecular consequence:
  • NM_001077401.2:c.653_654inv - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Synonyms:
PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
Identifiers:
MedGen: C1832529

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576321Medical & Molecular Genetics Group,University of Lincolnno assertion criteria providedPathogenicgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

Chen YJ, Yang QH, Liu D, Liu QQ, Eyries M, Wen L, Wu WH, Jiang X, Yuan P, Zhang R, Soubrier F, Jing ZC.

Eur J Clin Invest. 2013 Oct;43(10):1016-24. doi: 10.1111/eci.12138. Epub 2013 Aug 6.

PubMed [citation]
PMID:
23919827

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E.

Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review.

PubMed [citation]
PMID:
26387786
PMCID:
PMC4822159

Details of each submission

From Medical & Molecular Genetics Group,University of Lincoln, SCV000576321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 6, 2020

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