NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002485365.1
Allele description [Variation Report for NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)]
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)
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
-
Homo sapiens glutamate-ammonia ligase (GLUL), RefSeqGene on chromosome 1
Homo sapiens glutamate-ammonia ligase (GLUL), RefSeqGene on chromosome 1gi|742670592|ref|NG_013347.2|Nucleotide
-
S41 family peptidase [Shewanella oncorhynchi]
S41 family peptidase [Shewanella oncorhynchi]gi|2566802745|gnl|PRJNA1005235|RA17 50|gb|WMB73103.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024