NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) AND Congenital central hypoventilation
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001080799.6
Allele description [Variation Report for NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)]
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
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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Lactiplantibacillus plantarum strain 21615 16S ribosomal RNA gene, partial seque...
Lactiplantibacillus plantarum strain 21615 16S ribosomal RNA gene, partial sequencegi|2198973751|gb|OM802819.1|Nucleotide
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txid1590[orgn] AND "strain CIRM-BIA 1525"[All Fields] (1)
BioSample
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Microbe sample from Lactiplantibacillus plantarum
Microbe sample from Lactiplantibacillus plantarumbiosample
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Taxonomy Links for Nucleotide (Select 1700447723) (1)
Taxonomy
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Last Updated: May 1, 2024