NM_000166.6(GJB1):c.484del (p.Met162fs) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001906781.3
Allele description
NM_000166.6(GJB1):c.484del (p.Met162fs)
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
-
neuronal cell adhesion molecule isoform D precursor [Homo sapiens]
neuronal cell adhesion molecule isoform D precursor [Homo sapiens]gi|302191647|ref|NP_001180511.1|Protein
-
SaCdR50 Sedum alfredii Hance cDNA-AFLP library Sedum alfredii cDNA, mRNA sequenc...
SaCdR50 Sedum alfredii Hance cDNA-AFLP library Sedum alfredii cDNA, mRNA sequencegi|296285251|gnl|dbEST|69657868|gb| 976.1|Nucleotide
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Kluyveromyces lactis uncharacterized protein (KLLA0_F05181g), partial mRNA
Kluyveromyces lactis uncharacterized protein (KLLA0_F05181g), partial mRNAgi|50310590|ref|XM_455315.1|Nucleotide
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Last Updated: Feb 20, 2024