NM_004637.6(RAB7A):c.534G>A (p.Thr178=) AND Charcot-Marie-Tooth disease type 2B
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001469352.6
Allele description [Variation Report for NM_004637.6(RAB7A):c.534G>A (p.Thr178=)]
NM_004637.6(RAB7A):c.534G>A (p.Thr178=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2B (CMT2B)
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, TYPE 2B; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIB; Charcot-Marie-Tooth disease, axonal, type 2b; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010949; MedGen: C1833219; Orphanet: 99936; OMIM: 600882
Assertion and evidence details
Last Updated: Feb 20, 2024