NM_000166.6(GJB1):c.1A>G (p.Met1Val) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003581890.2
Allele description [Variation Report for NM_000166.6(GJB1):c.1A>G (p.Met1Val)]
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
-
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndromeMedGen
-
C0035934[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024