NM_001376.5(DYNC1H1):c.4179C>T (p.Tyr1393=) AND Charcot-Marie-Tooth disease axonal type 2O
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002104676.5
Allele description
NM_001376.5(DYNC1H1):c.4179C>T (p.Tyr1393=)
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
-
Homo sapiens ANTXR cell adhesion molecule 2 (ANTXR2), transcript variant 2, mRNA
Homo sapiens ANTXR cell adhesion molecule 2 (ANTXR2), transcript variant 2, mRNAgi|1889635644|ref|NM_001145794.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024