NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) AND Primary pulmonary hypertension 1

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:
RCV000488732.1

Allele description [Variation Report for NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)]

NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
Other names:
NP_001108225.1:p.G545S
HGVS:
  • NC_000009.12:g.127818173C>T
  • NG_009551.1:g.41596G>A
  • NM_000118.3:c.1633G>A
  • NM_001114753.2:c.1633G>A
  • NM_001114753.3:c.1633G>AMANE SELECT
  • NM_001278138.2:c.1087G>A
  • NP_000109.1:p.Gly545Ser
  • NP_001108225.1:p.Gly545Ser
  • NP_001108225.1:p.Gly545Ser
  • NP_001265067.1:p.Gly363Ser
  • LRG_589t1:c.1633G>A
  • LRG_589t2:c.1633G>A
  • LRG_589:g.41596G>A
  • LRG_589p1:p.Gly545Ser
  • LRG_589p2:p.Gly545Ser
  • NC_000009.11:g.130580452C>T
  • NM_001114753.1:c.1633G>A
  • NP_001108225.1:p.G545S
  • P17813:p.Gly545Ser
Protein change:
G363S
Links:
UniProtKB: P17813#VAR_070302; dbSNP: rs142896669
NCBI 1000 Genomes Browser:
rs142896669
Molecular consequence:
  • NM_000118.3:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.2:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary pulmonary hypertension 1 (PPH1)
Identifiers:
MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576357Medical & 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

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

Pfarr N, Fischer C, Ehlken N, Becker-Grünig T, López-González V, Gorenflo M, Hager A, Hinderhofer K, Miera O, Nagel C, Schranz D, Grünig E.

Respir Res. 2013 Jan 9;14:3. doi: 10.1186/1465-9921-14-3.

PubMed [citation]
PMID:
23298310
PMCID:
PMC3547748

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, SCV000576357.1

#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: Nov 27, 2021

Support Center