NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) AND Connective tissue disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002277274.10
Allele description [Variation Report for NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)]
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
-
57442[uid] AND (alive[prop]) (1)
Gene
-
Kcne3 potassium voltage-gated channel, Isk-related subfamily, gene 3 [Mus muscul...
Kcne3 potassium voltage-gated channel, Isk-related subfamily, gene 3 [Mus musculus]Gene ID:57442Gene
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Last Updated: Oct 8, 2024