NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter) AND Usher syndrome type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002308734.1
Allele description [Variation Report for NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)]
NM_206933.4(USH2A):c.9187A>T (p.Lys3063Ter)
Condition(s)
- Name:
- Usher syndrome type 2
- Synonyms:
- Usher Syndrome, Type II
- Identifiers:
- MONDO: MONDO:0016484; MedGen: C0339534
Assertion and evidence details
Last Updated: Nov 29, 2022