NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) AND Hearing impairment
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146009.6
Allele description [Variation Report for NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)]
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)
Condition(s)
- Name:
- Hearing impairment
- Identifiers:
- MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365
-
Mus musculus mixed lineage kinase domain-like (Mlkl), transcript variant 2, mRNA
Mus musculus mixed lineage kinase domain-like (Mlkl), transcript variant 2, mRNAgi|890761282|ref|NM_029005.3|Nucleotide
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Last Updated: Apr 9, 2023