Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV276654 (NM_152263.4(TPM3):c.*5573_*5574GA[1]) Homo sapiens

Symbol: CV276654
Name: NM_152263.4(TPM3):c.*5573_*5574GA[1]
Condition: Congenital fiber-type disproportion [RCV000290179]|Nemaline myopathy [RCV000328766]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TPM3  
Variant Type: microsatellite (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001364682.1:c.*5573_*5574GA[1]
NM_001364683.1:c.*5573_*5574GA[1]
NM_152263.4:c.*5573_*5574GA[1]
NM_001278191.2:c.395-4641_395-4640del
NM_001278188.2:c.467-4641_467-4640del
NM_001278190.1:c.602-4641_602-4640del
NM_001043352.2:c.665-3314_665-3313del
NM_001043353.2:c.665-3314_665-3313del
NM_001043351.2:c.665-4641_665-4640del
NM_153649.4:c.665-4641_665-4640del
NM_001278189.2:c.744-4641_744-4640del
NM_001349679.2:c.744-4641_744-4640del
NM_001364681.2:c.776-3314_776-3313del
NM_001364679.2:c.776-4641_776-4640del
NM_001364680.2:c.776-4641_776-4640del
NC_000001.10:g.154134837_154134838TC[1]
NG_008621.1:g.34770_34771GA[1]
NC_000001.11:g.154162361_154162362TC[1]
NM_152263.3:c.*5575_*5576delGA
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,162,361 - 154,162,362CLINVAR
GRCh371154,134,837 - 154,134,838CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Myopathies, Nemaline




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11649956
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE



NHLBI Logo

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