NM_021625.5(TRPV4):c.2388C>T (p.Asn796=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002456386.2
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:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Chain F, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
Chain F, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2gi|2463610960|pdb|7W0Y|FProtein
-
Chain H, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5
Chain H, NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5gi|2463610962|pdb|7W0Y|HProtein
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Last Updated: Sep 29, 2024