NM_002775.5(HTRA1):c.843C>T (p.Ala281=) AND Macular degeneration
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000346013.5
Allele description [Variation Report for NM_002775.5(HTRA1):c.843C>T (p.Ala281=)]
NM_002775.5(HTRA1):c.843C>T (p.Ala281=)
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: Feb 28, 2024