NM_001376.5(DYNC1H1):c.1699C>T (p.Arg567Cys) AND Charcot-Marie-Tooth disease axonal type 2O
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003642698.2
Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1699C>T (p.Arg567Cys)]
NM_001376.5(DYNC1H1):c.1699C>T (p.Arg567Cys)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2O
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O; Charcot-Marie-Tooth disease, axonal, type 20; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0013644; MedGen: C3280220; Orphanet: 284232; OMIM: 614228
-
serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform 8 [Homo sapi...
serine/threonine-protein phosphatase 6 regulatory subunit 3 isoform 8 [Homo sapiens]gi|1204934576|ref|NP_001339279.1|Protein
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Last Updated: Sep 29, 2024