NM_000166.6(GJB1):c.637A>G (p.Ile213Val) AND Charcot-Marie-Tooth Neuropathy X
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000654834.4
Allele description [Variation Report for NM_000166.6(GJB1):c.637A>G (p.Ile213Val)]
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)
Condition(s)
- Name:
- Charcot-Marie-Tooth Neuropathy X
- Identifiers:
- MedGen: CN118851
-
GAPDP15 (0)
Conserved Domains
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024