Variant #0000008385 (NC_000001.10:-, LMNA(NM_170707.2):c.?)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Type |
Deletion |
DNA change (genomic) (Relative to hg19 / GRCh37) |
- |
Reference |
GenBank |
DB-ID |
LMNA_00225 |
Frequency |
- |
Variant remarks |
This novel LMNA deletion causes a distinct, highly malignant cardiomyopathy with early-onset primary cardiac
fibrosis likely due to an effect of the shortened mutant protein, which secondarily leads to arrhythmias and
end-stage cardiac failure |
ClassClinical |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Qi Ming |
Database submission license |
No license selected |
Created by |
Qi Ming |
Variant on transcripts
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