NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp) AND Leber congenital amaurosis 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003992701.2
Allele description [Variation Report for NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)]
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
Condition(s)
- Name:
- Leber congenital amaurosis 1 (LCA1)
- Synonyms:
- AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000
Assertion and evidence details
Last Updated: Nov 3, 2024