NM_000551.4(VHL):c.508G>A (p.Val170Ile) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002483543.1
Allele description [Variation Report for NM_000551.4(VHL):c.508G>A (p.Val170Ile)]
NM_000551.4(VHL):c.508G>A (p.Val170Ile)
Condition(s)
- Name:
- Chuvash polycythemia
- Synonyms:
- POLYCYTHEMIA, VHL-DEPENDENT; Erythrocytosis, familial, 2
- Identifiers:
- MONDO: MONDO:0009892; MedGen: C1837915; Orphanet: 238557; OMIM: 263400
- Name:
- Pheochromocytoma
- Synonyms:
- Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666
Assertion and evidence details
Last Updated: Sep 29, 2024