Gene Symbol: PLN
OMIM: 172405Chromosome location: 6q22.31
Related informations:  
NCBI Gene  
Genome Browser  
Ensembl  
UniProt  
GeneCards  
Kyoto Encyclopedia  
BioGPS  
HGNC  
HPRD  
Phenotype: |    Cardiomyopathy, dilated, 1P |
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Dna Change: |    c.40_42delAGA |
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Protein Change: |    p.Arg14del |
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Mutation Type: |    Deletion |
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Mutation Effect: |    In-frame deletion |
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Location: |    exon 2 |
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Transcript: |    NM_002667.3 |
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References
López-Ayala JM, Boven L, van den Wijngaard A, Peñafiel-Verdú P, van Tintelen JP, Gimeno JR, Phospholamban p.arg14del Mutation in a Spanish Family With Arrhythmogenic Cardiomyopathy: Evidence for a European Founder Mutation.Rev Esp Cardiol (Engl Ed). 2015; 0(0):