NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) AND Charcot-Marie-Tooth disease, axonal, type 2S
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 6, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000149577.4
Allele description
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly)
Condition(s)
Assertion and evidence details
Last Updated: Oct 5, 2016