NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) AND Leber congenital amaurosis 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000989171.9
Allele description [Variation Report for NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)]
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
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: Apr 20, 2024