NM_000350.3(ABCA4):c.4253+4C>T AND Retinal dystrophy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001075880.2
Allele description [Variation Report for NM_000350.3(ABCA4):c.4253+4C>T]
NM_000350.3(ABCA4):c.4253+4C>T
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
DHRS11 [Alligator sinensis]
DHRS11 [Alligator sinensis]Gene ID:112551119Gene
-
CD248 [Alligator sinensis]
CD248 [Alligator sinensis]Gene ID:112551415Gene
-
Dpy19l1 [Arvicola amphibius]
Dpy19l1 [Arvicola amphibius]Gene ID:119809797Gene
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Last Updated: Oct 26, 2024