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NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) AND Hypertrophic cardiomyopathy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 23, 1992
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:
RCV000015149.26

Allele description [Variation Report for NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)]

NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)

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.2845G>A (p.Glu949Lys)
Other names:
NM_000257.4(MYH7):c.2845G>A
HGVS:
  • NC_000014.9:g.23423984C>T
  • NG_007884.1:g.16678G>A
  • NM_000257.4:c.2845G>AMANE SELECT
  • NP_000248.2:p.Glu949Lys
  • LRG_384t1:c.2845G>A
  • LRG_384:g.16678G>A
  • NC_000014.8:g.23893193C>T
  • NM_000257.2:c.2845G>A
  • P12883:p.Glu949Lys
Protein change:
E949K; GLU949LYS
Links:
UniProtKB: P12883#VAR_004598; OMIM: 160760.0007; dbSNP: rs121913629
NCBI 1000 Genomes Browser:
rs121913629
Molecular consequence:
  • NM_000257.4:c.2845G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035406OMIM
no assertion criteria provided
Pathogenic
(Apr 23, 1992)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG.

N Engl J Med. 1992 Apr 23;326(17):1108-14.

PubMed [citation]
PMID:
1552912

Details of each submission

From OMIM, SCV000035406.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See 160760.0002. Watkins et al. (1992) found this mutation in 1 family with familial hypertrophic cardiomyopathy (CMH1; 192600).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024