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Variant : CV205299 (NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)) Homo sapiens

Symbol: CV205299
Name: NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val)
Condition: Inborn genetic diseases [RCV000190806]|Myopathy, proximal, and ophthalmoplegia [RCV001063387]
Clinical Significance: uncertain significance
Last Evaluated: 12/26/2019
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: MYH2   MYHAS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_013014.1:g.30923C>T
NC_000017.11:g.10523778G>A
NC_000017.10:g.10427095G>A
NP_060004.3:p.Ala1761Val
NM_001100112.1:c.5282C>T
NM_017534.5:c.5282C>T
NP_001093582.1:p.Ala1761Val
NM_017534.6:c.5282C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381710,523,778 - 10,523,778CLINVAR
GRCh371710,427,095 - 10,427,095CLINVAR
Cytogenetic Map1717p13.1CLINVAR
Trait Synonyms: Inclusion body myopathy 3; INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT; Inclusion body myopathy autosomal dominant; Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles; MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10401591
Created: 2015-10-06
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.