NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) AND Congenital central hypoventilation
- Germline classification:
- Benign (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:
- RCV000643955.8
Allele description [Variation Report for NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)]
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)
Condition(s)
- Name:
- Congenital central hypoventilation
- Synonyms:
- Idiopathic congenital central alveolar hypoventilation; Congenital failure of autonomic control; Primary alveolar hypoventilation; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0800031; MedGen: C1275808; Orphanet: 661; Orphanet: 99803; OMIM: PS209880
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RecName: Full=Protein X; AltName: Full=HBx; AltName: Full=Peptide X; AltName: Fu...
RecName: Full=Protein X; AltName: Full=HBx; AltName: Full=Peptide X; AltName: Full=pXgi|81977975|sp|Q9QMI3.1|X_HBVD4Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024