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Variant : CV276423 (NM_152263.4(TPM3):c.*4513G>A) Homo sapiens

Symbol: CV276423
Name: NM_152263.4(TPM3):c.*4513G>A
Condition: Congenital fiber-type disproportion [RCV000376692]|Nemaline myopathy [RCV000284647]
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): NG_008621.1:g.33710G>A
NC_000001.11:g.154163424C>T
NC_000001.10:g.154135900C>T
NM_001278190.1:c.602-5703G>A
NM_001043352.2:c.665-4376G>A
NM_001043353.2:c.665-4376G>A
NM_001364682.1:c.*4513G>A
NM_001364683.1:c.*4513G>A
NM_152263.4:c.*4513G>A
NM_001278191.2:c.395-5703G>A
NM_001278188.2:c.467-5703G>A
NM_001043351.2:c.665-5703G>A
NM_153649.4:c.665-5703G>A
NM_001278189.2:c.744-5703G>A
NM_001349679.2:c.744-5703G>A
NM_001364681.2:c.776-4376G>A
NM_001364679.2:c.776-5703G>A
NM_001364680.2:c.776-5703G>A
NM_152263.3:c.*4513G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381154,163,424 - 154,163,424CLINVAR
GRCh371154,135,900 - 154,135,900CLINVAR
Cytogenetic Map11q21.3CLINVAR
Trait Synonyms: Myopathies, Nemaline



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11661445
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.