NM_000257.3(MYH7):c.5740G>A (p.Glu1914Lys) AND Myopathy, distal, 1

Clinical significance:Pathogenic (Last evaluated: Mar 12, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000192205.1

Allele description

NM_000257.3(MYH7):c.5740G>A (p.Glu1914Lys)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.3(MYH7):c.5740G>A (p.Glu1914Lys)
HGVS:
  • NC_000014.9:g.23413809C>T
  • NG_007884.1:g.26853G>A
  • NM_000257.3:c.5740G>A
  • NP_000248.2:p.Glu1914Lys
  • LRG_384t1:c.5740G>A
  • LRG_384:g.26853G>A
  • LRG_384p1:p.Glu1914Lys
  • NC_000014.8:g.23883018C>T
  • NM_000257.2:c.5740G>A
  • c.5740G>A
Protein change:
E1914K
Links:
dbSNP: rs397516254
NCBI 1000 Genomes Browser:
rs397516254
Molecular consequence:
  • NM_000257.3:c.5740G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myopathy, distal, 1 (MPD1)
Synonyms:
MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Laing distal myopathy
Identifiers:
MedGen: CN074249; Orphanet: 59135; OMIM: 160500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223112GeneReviewsno assertion criteria providedPathogenic
(Mar 12, 2015)
germlineliterature only

Citation Link

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000223112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 24, 2018