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Variant : CV276474 (NM_152263.4(TPM3):c.*1291A>G) Homo sapiens

Symbol: CV276474
Name: NM_152263.4(TPM3):c.*1291A>G
Condition: Congenital fiber-type disproportion [RCV000350223]|Nemaline myopathy [RCV000398191]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TPM3  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_152263.3:c.*1291A>G
NM_001364683.1:c.*1291A>G
NM_001278188.2:c.466+3754A>G
NM_001364680.2:c.775+3754A>G
NG_008621.1:g.30488A>G
NC_000001.11:g.154166646T>C
NC_000001.10:g.154139122T>C
NM_001364682.1:c.*1291A>G
NM_001278191.2:c.394+3754A>G
NM_001278190.1:c.601+3754A>G
NM_001043351.2:c.664+3754A>G
NM_001043352.2:c.664+3754A>G
NM_152263.4:c.*1291A>G
NM_001043353.2:c.664+3754A>G
NM_153649.4:c.664+3754A>G
NM_001278189.2:c.743+2659A>G
NM_001349679.2:c.743+2659A>G
NM_001364679.2:c.775+3754A>G
NM_001364681.2:c.775+3754A>G
NG_046324.1:g.4A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,166,646 - 154,166,646CLINVAR
GRCh371154,139,122 - 154,139,122CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Myopathies, Nemaline



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11593584
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.