NM_001127453.2(GSDME):c.480G>C (p.Gln160His) AND Autosomal dominant nonsyndromic hearing loss 5
- 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:
- RCV000337658.5
Allele description [Variation Report for NM_001127453.2(GSDME):c.480G>C (p.Gln160His)]
NM_001127453.2(GSDME):c.480G>C (p.Gln160His)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024