NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) AND Severe early-childhood-onset retinal dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000331014.13
Allele description [Variation Report for NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)]
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)
Condition(s)
- Name:
- Severe early-childhood-onset retinal dystrophy (STGD1)
- Synonyms:
- MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200
-
Gm20172 AND (alive[prop]) (2)
Gene
-
Gm45392 predicted gene 45392 [Mus musculus]
Gm45392 predicted gene 45392 [Mus musculus]Gene ID:118567493Gene
-
Gm45392 AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024