Disorder "Retinal Degeneration"
Found 1 record
Disorder information
Disorder name:
Retinal Degeneration
Disoder ID:
Synonyms:
RETINA degeneration,degeneration of retina
Definition:
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| RPGRIP1L | RPGRIP1L:c.685G>A(p.Ala229Thr) | Penetrance | Altered incidence | Gene activity study | The absence of 229T might have a protective effect from RP.more | more |
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