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NM_000257.4(MYH7):c.674C>T (p.Pro225Leu) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (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:
RCV000850326.1

Allele description [Variation Report for NM_000257.4(MYH7):c.674C>T (p.Pro225Leu)]

NM_000257.4(MYH7):c.674C>T (p.Pro225Leu)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.674C>T (p.Pro225Leu)
HGVS:
  • NC_000014.9:g.23431643G>A
  • NG_007884.1:g.9019C>T
  • NM_000257.4:c.674C>TMANE SELECT
  • NP_000248.2:p.Pro225Leu
  • LRG_384:g.9019C>T
  • NC_000014.8:g.23900852G>A
Protein change:
P225L
Links:
dbSNP: rs1595089491
NCBI 1000 Genomes Browser:
rs1595089491
Molecular consequence:
  • NM_000257.4:c.674C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

Recent activity

  • Respirovirus Infections
    Respirovirus Infections
    Infections with viruses of the genus RESPIROVIRUS, family PARAMYXOVIRIDAE. Host cell infection occurs by adsorption, via HEMAGGLUTININ, to the cell surface....<br/>Year introduced: 2002 (1977)
    MeSH

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000992501Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Uncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV000992501.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022