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NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp) 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:
RCV000488621.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp)]

NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp)
HGVS:
  • NC_000012.12:g.51920814C>A
  • NG_009549.1:g.18397C>A
  • NM_000020.3:c.1433C>AMANE SELECT
  • NM_001077401.2:c.1433C>A
  • NP_000011.2:p.Ala478Asp
  • NP_000011.2:p.Ala478Asp
  • NP_001070869.1:p.Ala478Asp
  • LRG_543t1:c.1433C>A
  • LRG_543:g.18397C>A
  • LRG_543p1:p.Ala478Asp
  • NC_000012.11:g.52314598C>A
  • NM_000020.2:c.1433C>A
Protein change:
A478D
Links:
dbSNP: rs1085307425
NCBI 1000 Genomes Browser:
rs1085307425
Molecular consequence:
  • NM_000020.3:c.1433C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.1433C>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000576342Rare Disease Genomics Group, St George's University of London
no assertion criteria provided
Pathogenicgermlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.

Chida A, Shintani M, Yagi H, Fujiwara M, Kojima Y, Sato H, Imamura S, Yokozawa M, Onodera N, Horigome H, Kobayashi T, Hatai Y, Nakayama T, Fukushima H, Nishiyama M, Doi S, Ono Y, Yasukouchi S, Ichida F, Fujimoto K, Ohtsuki S, Teshima H, et al.

Am J Cardiol. 2012 Aug 15;110(4):586-93. doi: 10.1016/j.amjcard.2012.04.035. Epub 2012 May 25. Erratum in: Am J Cardiol. 2013 Feb 15;111(4):630.

PubMed [citation]
PMID:
22632830

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576342.1

#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: Sep 29, 2024