NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser) AND Usher syndrome type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001199450.1
Allele description [Variation Report for NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)]
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser)
Condition(s)
- Name:
- Usher syndrome type 2
- Synonyms:
- Usher Syndrome, Type II
- Identifiers:
- MONDO: MONDO:0016484; MedGen: C0339534
Assertion and evidence details
Last Updated: Jul 7, 2024