NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002487264.1
Allele description [Variation Report for NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)]
NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)
Condition(s)
- Name:
- Medulloblastoma (MDB)
- Synonyms:
- Medulloblastoma, somatic; MEDULLOBLASTOMA PREDISPOSITION SYNDROME
- Identifiers:
- MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885
- Name:
- Familial dysautonomia (HSAN3)
- Synonyms:
- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN III; Hereditary sensory and autonomic neuropathy 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009131; MedGen: C0013364; Orphanet: 1764; OMIM: 223900
-
hypothetical protein [Amblyomma maculatum]
hypothetical protein [Amblyomma maculatum]gi|346472443|gb|AEO36066.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 1, 2023