Disorder "Skeletal Muscle Atrophy"
Found 4 records
Disorder information
Disorder name:
Skeletal Muscle Atrophy 
Disoder ID:
Definition:
The presence of skeletal muscular atrophy (which is also known as amyotrophy). 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Penetrance(4)  
Modifier effect:
Altered incidence(4)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
BICD2 BICD2:c.1626C>G(p.Cys542Trp) Penetrance  Altered incidence  Pedigree analysis  May act in a protective fashion to ameliorate or abrogate diseasemore more
BICD2:c.2080C>T(p.Arg694Cys) Penetrance  Altered incidence  Pedigree analysis  May act in a protective fashion to ameliorate or abrogate diseasemore more
BICD2:c.2108C>T(p.Thr703Met) Penetrance  Altered incidence  Pedigree analysis  May act in a protective fashion to ameliorate or abrogate diseasemore more
BICD2:c.581A>G,p.(Gln194Arg) Penetrance  Altered incidence  Pedigree analysis  May act in a protective fashion to ameliorate or abrogate diseasemore more
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