NM_000124.4(ERCC6):c.*53T>C AND Macular degeneration
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000393263.5
Allele description [Variation Report for NM_000124.4(ERCC6):c.*53T>C]
NM_000124.4(ERCC6):c.*53T>C
Condition(s)
- Name:
- Macular degeneration
- Synonyms:
- Degenerative disorder of macula
- Identifiers:
- MONDO: MONDO:0003004; MedGen: C0024437; Human Phenotype Ontology: HP:0000608
-
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Schwannoma of ureter
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Last Updated: Sep 29, 2024