Geno
|
Mag
|
Summary
|
(A;A)
|
0
|
common in clinvar
|
ClinVar
|
Risk
|
rs281864930(-;-) |
Alt
|
rs281864930(-;-) |
Reference
|
Rs281864930(A;A) |
Significance |
Pathogenic |
Disease |
Distal myopathy Markesbery-Griggs type not provided Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Dilated cardiomyopathy 1G Myopathy Limb-girdle muscular dystrophy |
Variation | info |
---|
Gene |
TTN TTN-AS1 |
CLNDBN |
Distal myopathy Markesbery-Griggs type not provided Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Dilated cardiomyopathy 1G Myopathy, early-onset, with fatal cardiomyopathy Limb-girdle muscular dystrophy, type 2J |
Reversed |
1 |
HGVS |
NC_000002.11:g.179391826delT |
CLNSRC |
ClinVar GeneReviews |
CLNACC |
RCV000031995.4, RCV000184369.3, RCV000271287.1, RCV000307035.1, RCV000342035.1, RCV000366408.1, RCV000390302.1, |
[PMID 18948003] Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).