NM_021625.5(TRPV4):c.2388C>T (p.Asn796=) AND Charcot-Marie-Tooth disease axonal type 2C
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000865067.9
Allele description [Variation Report for NM_021625.5(TRPV4):c.2388C>T (p.Asn796=)]
NM_021625.5(TRPV4):c.2388C>T (p.Asn796=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease axonal type 2C (HMSN2C)
- Synonyms:
- Charcot-Marie-Tooth disease type 2C; Hereditary motor and sensory neuropathy 2 C; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2C; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011633; MedGen: C1853710; OMIM: 606071
-
PREDICTED: Glycine max probable WRKY transcription factor 15 (LOC100804089), tra...
PREDICTED: Glycine max probable WRKY transcription factor 15 (LOC100804089), transcript variant X2, mRNAgi|2027448562|ref|XM_006573584.4|Nucleotide
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Last Updated: Sep 29, 2024