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Variant : CV276692 (NM_152263.4(TPM3):c.*1246_*1247dup) Homo sapiens

Symbol: CV276692
Name: NM_152263.4(TPM3):c.*1246_*1247dup
Condition: Congenital fiber-type disproportion [RCV000307028]|Nemaline myopathy [RCV000398242]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: TPM3  
Variant Type: duplication (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001349679.2:c.743+2604_743+2605dup
NM_153649.4:c.664+3699_664+3700dup
NM_001364683.1:c.*1246_*1247dup
NM_001278190.1:c.601+3699_601+3700dup
NM_001043351.2:c.664+3699_664+3700dup
NM_001278189.2:c.743+2604_743+2605dup
NM_001364679.2:c.775+3699_775+3700dup
NM_152263.4:c.*1246_*1247dup
NM_001278191.2:c.394+3699_394+3700dup
NM_001278188.2:c.466+3699_466+3700dup
NC_000001.10:g.154139176_154139177dup
NM_152263.3:c.*1246_*1247dupAA
NG_008621.1:g.30443_30444dup
NM_001364680.2:c.775+3699_775+3700dup
NM_001364681.2:c.775+3699_775+3700dup
NC_000001.11:g.154166700_154166701dup
NM_001364682.1:c.*1246_*1247dup
NM_001043352.2:c.664+3699_664+3700dup
NM_001043353.2:c.664+3699_664+3700dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,166,690 - 154,166,691CLINVAR
GRCh371154,139,166 - 154,139,167CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Myopathies, Nemaline



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11635133
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.