NM_001430.5(EPAS1):c.1821C>T (p.Ile607=) AND Erythrocytosis, familial, 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001143054.4
Allele description [Variation Report for NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)]
NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)
Condition(s)
-
Homo sapiens NANOG hESC enhancer GRCh37_chr2:112290355-112290856 (LOC127274441) ...
Homo sapiens NANOG hESC enhancer GRCh37_chr2:112290355-112290856 (LOC127274441) on chromosome 2gi|2322705520|ref|NG_096291.1|Nucleotide
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Last Updated: Apr 9, 2023