Variant #0000012305 (NC_000006.11:-, PLN(NM_002667.3):c.116T>G)
| Chromosome |
6 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Type |
Substitution |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
- |
| Reference |
GenBank |
| DB-ID |
PLN_00003 See all 5 reported entries |
| Frequency |
- |
| Variant remarks |
The heterozygous
carriers of the Leu39Ter mutation exhibited asymptomatic
hypertrophic cardiomyopathy without diminished contractile
performance. Homozygous carriers of this mutation developed
a severe form of DCM resulting in heart failure requiring
cardiac transplantation at a young age [10]. Additional studies
have identified other mutations in PLN causing DCM [5,11,12]
and mutations in the promoter region that may result in FHC
[13,14]. Mutations in the PLN gene are likely to lead to a
cardiomyopathic phenotype. |
| ClassClinical |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Qi Ming |
| Database submission license |
No license selected |
| Created by |
Qi Ming |
Variant on transcripts
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