NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002488667.1
Allele description [Variation Report for NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)]
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His)
Condition(s)
- Name:
- Leber congenital amaurosis 10 (LCA10)
- Synonyms:
- Amaurosis congenita of Leber, type 10
- Identifiers:
- MONDO: MONDO:0012723; MedGen: C1857821; Orphanet: 65; OMIM: 611755
- Name:
- Meckel syndrome, type 4 (MKS4)
- Synonyms:
- MECKEL-GRUBER SYNDROME, TYPE 4
- Identifiers:
- MONDO: MONDO:0012626; MedGen: C1970161; Orphanet: 564; OMIM: 611134
- Name:
- Senior-Loken syndrome 6 (SLSN6)
- Identifiers:
- MONDO: MONDO:0012433; MedGen: C1857779; Orphanet: 3156; OMIM: 610189
Assertion and evidence details
Last Updated: Sep 1, 2024