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NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) AND Pulmonary hypertension, primary, 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000488732.3

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_000118.4:c.1633G>A
  • NM_001114753.3:c.1633G>AMANE SELECT
  • NM_001278138.2:c.1087G>A
  • NP_000109.1:p.Gly545Ser
  • 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_000118.2:c.1633G>A
  • NM_000118.3:c.1633G>A
  • NM_001114753.1:c.1633G>A
  • NM_001114753.2: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_000118.4: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:
Pulmonary hypertension, primary, 1
Identifiers:
MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576357Rare Disease Genomics Group, St George's University of London
no assertion criteria provided
Pathogenicgermlineliterature only

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

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

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576357.1

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

Last Updated: May 1, 2024