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Variant : CV576177 (NM_017534.6(MYH2):c.2609C>T (p.Ala870Val)) Homo sapiens

Symbol: CV576177
Name: NM_017534.6(MYH2):c.2609C>T (p.Ala870Val)
Condition: MYH2-related myopathy [RCV000709832]|Myopathy, proximal, and ophthalmoplegia [RCV001063613]
Clinical Significance: uncertain significance|not provided
Last Evaluated: 01/30/2019
Review Status: criteria provided, single submitter|no assertion provided
Related Genes: MYH2   MYHAS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing|phenotyping only
HGVS Name(s): NG_013014.1:g.22980C>T
NC_000017.11:g.10531721G>A
NC_000017.10:g.10435038G>A
NP_060004.3:p.Ala870Val
NM_001100112.1:c.2609C>T
NM_017534.6:c.2609C>T
NM_017534.5:c.2609C>T
NP_001093582.1:p.Ala870Val
Position
Human AssemblyChrPosition (strand)Source
GRCh381710,531,721 - 10,531,721CLINVAR
GRCh371710,435,038 - 10,435,038CLINVAR
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 - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13820770
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-08-04
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.