NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) AND Connective tissue disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002277550.3
Allele description [Variation Report for NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)]
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
-
Chain A, 5-epi-aristolochene synthase
Chain A, 5-epi-aristolochene synthasegi|1153683855|pdb|5IM1|AProtein
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Last Updated: Sep 29, 2024