NM_004004.6(GJB2):c.250G>C (p.Val84Leu) AND GJB2-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003335046.1
Allele description [Variation Report for NM_004004.6(GJB2):c.250G>C (p.Val84Leu)]
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
Condition(s)
- Name:
- GJB2-related disorder
- Synonyms:
- GJB2-Related Disorders; GJB2-related condition
- Identifiers:
-
Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA
Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNAgi|238776791|ref|NM_031905.3|Nucleotide
-
Homo sapiens hypothetical protein MGC3195 (MGC3195), mRNA
Homo sapiens hypothetical protein MGC3195 (MGC3195), mRNAgi|13994265|ref|NM_031905.1|Nucleotide
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Last Updated: Aug 25, 2024