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NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) AND Pulmonary hypertension, primary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000171651.3

Allele description [Variation Report for NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)]

NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)

Gene:
KCNA5:potassium voltage-gated channel subfamily A member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
Preferred name:
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp)
HGVS:
  • NC_000012.12:g.5044780G>C
  • NG_012198.1:g.5862G>C
  • NM_002234.4:c.633G>CMANE SELECT
  • NP_002225.2:p.Glu211Asp
  • NC_000012.11:g.5153946G>C
  • NM_002234.2:c.633G>C
  • NM_002234.3:c.633G>C
Protein change:
E211D
Links:
dbSNP: rs35853292
NCBI 1000 Genomes Browser:
rs35853292
Molecular consequence:
  • NM_002234.4:c.633G>C - 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
SCV000050687Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))		Uncertain significance
(Jun 24, 2013) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown3not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000050687.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 13, 2024