NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) AND not specified
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Feb 11, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000037828.18
Allele description [Variation Report for NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)]
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Protein Links for Nucleotide (Select 1603740447) (1582)
Protein
-
Homo sapiens
Homo sapiensDifferential expression of genes in human CD8+ T cell clones expanded with eAPC vs eAPC:4-1BBLBioProject
-
-eapc eggc.vipfz5 (1)
BioProject
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Last Updated: May 19, 2024