NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter) AND Autosomal recessive nonsyndromic hearing loss 77
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309485.2
Allele description [Variation Report for NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)]
NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022