Disorder "X-linked Alport syndrome"
Found 1 record
Disorder information
Disorder name:
X-linked Alport syndrome
Disoder ID:
OMIM entry:
Synonyms:
X-linked Alport syndrome, nephropathy and deafness, X-linked, Alport syndrome, X-linked
Definition:
An alport syndrome that has material basis in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type iv (col4a5).
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| COL4A3 | COL4A3:rs761518401 | Expressivity | Altered severity | Pedigree analysis | the somatic variant in COL4A5 showed a severe phenotype without skewed X chromosome inactivation,more | more |
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