NM_001376.5(DYNC1H1):c.1989G>A (p.Lys663=) AND Charcot-Marie-Tooth disease axonal type 2O
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003529352.2
Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1989G>A (p.Lys663=)]
NM_001376.5(DYNC1H1):c.1989G>A (p.Lys663=)
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
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Saccharomyces cerevisiae S288C DUP240 family protein (DFP4), partial mRNA
Saccharomyces cerevisiae S288C DUP240 family protein (DFP4), partial mRNAgi|296145327|ref|NM_001179124.1|Nucleotide
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F11R F11 receptor [Homo sapiens]
F11R F11 receptor [Homo sapiens]Gene ID:50848Gene
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Gene Links for GEO Profiles (Select 121164972) (1)
Gene
-
Protein Links for Gene (Select 856341) (3)
Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024