NM_002775.5(HTRA1):c.840C>A (p.Val280=) AND Macular degeneration
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001105826.4
Allele description [Variation Report for NM_002775.5(HTRA1):c.840C>A (p.Val280=)]
NM_002775.5(HTRA1):c.840C>A (p.Val280=)
Condition(s)
- Name:
- Macular degeneration
- Synonyms:
- Degenerative disorder of macula
- Identifiers:
- MONDO: MONDO:0003004; MedGen: C0024437; Human Phenotype Ontology: HP:0000608
Assertion and evidence details
Last Updated: Apr 9, 2023