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Variant : CV276467 (NM_152263.4(TPM3):c.*2147del) Homo sapiens

Symbol: CV276467
Name: NM_152263.4(TPM3):c.*2147del
Condition: Congenital fiber-type disproportion [RCV000301335]|Nemaline myopathy [RCV000356169]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TPM3  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001364679.2:c.775+4610del
NM_001364683.1:c.*2147del
NM_152263.4:c.*2147del
NM_001278191.2:c.394+4610del
NM_001278190.1:c.601+4610del
NM_001043351.2:c.664+4610del
NM_001043352.2:c.664+4610del
NM_001043353.2:c.664+4610del
NM_001278189.2:c.743+3515del
NM_001349679.2:c.743+3515del
NC_000001.11:g.154165806del
NC_000001.10:g.154138282del
NM_152263.3:c.*2147delT
NM_153649.4:c.664+4610del
NM_001364682.1:c.*2147del
NM_001364680.2:c.775+4610del
NM_001364681.2:c.775+4610del
NG_008621.1:g.31344del
NM_001278188.2:c.466+4610del
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,165,790 - 154,165,790CLINVAR
GRCh371154,138,266 - 154,138,266CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Myopathies, Nemaline



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11588275
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.