NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) AND EPAS1-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Oct 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003912416.1
Allele description [Variation Report for NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr)]
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr)
Condition(s)
- Name:
- EPAS1-related disorder
- Synonyms:
- EPAS1-related condition
- Identifiers:
-
Links from autonomous proteins to species level organisms for Pro... (1)
Links from autonomous proteins to species level organisms for Protein (Select 491811717)SearchTaxonomy
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Last Updated: May 19, 2024