NM_000186.4(CFH):c.2821G>T (p.Val941Phe) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494283.1
Allele description [Variation Report for NM_000186.4(CFH):c.2821G>T (p.Val941Phe)]
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)
Condition(s)
- Name:
- Basal laminar drusen
- Synonyms:
- DRUSEN OF BRUCH MEMBRANE; DRUSEN, CUTICULAR; DRUSEN, EARLY ADULT-ONSET, GROUPED
- Identifiers:
- MONDO: MONDO:0007472; MedGen: C0730295; Orphanet: 75376; OMIM: 126700
- Name:
- Factor H deficiency (CFHD)
- Synonyms:
- COMPLEMENT FACTOR H DEFICIENCY; CFH DEFICIENCY
- Identifiers:
- MONDO: MONDO:0012350; MedGen: C0398777; OMIM: 609814
Assertion and evidence details
Last Updated: Feb 28, 2024