NM_000350.3(ABCA4):c.4254-1G>A AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001074402.2
Allele description [Variation Report for NM_000350.3(ABCA4):c.4254-1G>A]
NM_000350.3(ABCA4):c.4254-1G>A
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
-
Stip1 stress-induced phosphoprotein 1 [Rattus norvegicus]
Stip1 stress-induced phosphoprotein 1 [Rattus norvegicus]Gene ID:192277Gene
-
192277[uid] AND (alive[prop]) (1)
Gene
-
LOC128925246 [Mus musculus]
LOC128925246 [Mus musculus]Gene ID:128925246Gene
-
RETREG1 reticulophagy regulator 1 [Homo sapiens]
RETREG1 reticulophagy regulator 1 [Homo sapiens]Gene ID:54463Gene
-
Gene Links for GEO Profiles (Select 44326848) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024