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NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) AND Idiopathic camptocormia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2014
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:
RCV000186557.2

Allele description [Variation Report for NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)]

NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)

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.5329G>A (p.Ala1777Thr)
Other names:
NM_000257.3(MYH7):c.5329G>A
HGVS:
  • NC_000014.9:g.23415225C>T
  • NG_007884.1:g.25437G>A
  • NM_000257.4:c.5329G>AMANE SELECT
  • NP_000248.2:p.Ala1777Thr
  • LRG_384t1:c.5329G>A
  • LRG_384:g.25437G>A
  • NC_000014.8:g.23884434C>T
  • NM_000257.2:c.5329G>A
  • NM_000257.3:c.5329G>A
  • P12883:p.Ala1777Thr
Protein change:
A1777T
Links:
UniProtKB: P12883#VAR_019871; dbSNP: rs200939753
NCBI 1000 Genomes Browser:
rs200939753
Molecular consequence:
  • NM_000257.4:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Idiopathic camptocormia
Synonyms:
Camptocormism; Camptocormia; Bent spine; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015271; MedGen: C0264162; Human Phenotype Ontology: HP:0100595

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000240099Department of Neurology, University Hospital of Strasbourg
no assertion criteria provided
Pathogenic
(Jan 1, 2014)
unknownliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasianssunknownyes11not provided1yesliterature only

Citations

PubMed

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project.

Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. Erratum in: Circulation. 2004 Jun 29;109(25):3258.

PubMed [citation]
PMID:
12707239

Details of each submission

From Department of Neurology, University Hospital of Strasbourg, SCV000240099.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasianss1not providedyesliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1Musclenot provided1not provided1not provided

Last Updated: May 16, 2025