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:
4
Gene:
1
Variant:
4
Reference:
1
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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