| ClinVar
|
| Risk
|
rs142000963(A;A) rs142000963(T;T) |
| Alt
|
rs142000963(A;A) rs142000963(T;T) |
| Reference
|
Rs142000963(C;C) |
| Significance |
Other |
| Disease |
not provided Variant of unknown significance not specified Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease |
| Variation | info |
|---|
| Gene |
LMNA |
| CLNDBN |
not provided Variant of unknown significance not specified Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2 |
| Reversed |
0 |
| HGVS |
NC_000001.10:g.156108510C>A; NC_000001.10:g.156108510C>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000057373.1, RCV000015626.5, RCV000041340.4, RCV000057374.4, RCV000144868.1, RCV000148602.1, RCV000245284.1, RCV000471403.1, |