NM_002764.4(PRPS1):c.343A>G (p.Met115Val) AND Charcot-Marie-Tooth disease X-linked recessive 5
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 1, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000143859.3
Allele description
NM_002764.4(PRPS1):c.343A>G (p.Met115Val)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease X-linked recessive 5
- Synonyms:
- Rosenberg Chutorian syndrome; Optic atrophy, polyneuropathy, and deafness; Optic atrophy, sensorineural hearing loss and polyneuropathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010699; MedGen: C1839566; OMIM: 311070
Assertion and evidence details
Last Updated: Jun 18, 2022