NM_003924.4(PHOX2B):c.492G>A (p.Ala164=) AND Haddad syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003634351.1
Allele description [Variation Report for NM_003924.4(PHOX2B):c.492G>A (p.Ala164=)]
NM_003924.4(PHOX2B):c.492G>A (p.Ala164=)
Condition(s)
-
cytoplasmic tyrosine-protein kinase BMX isoform 1 [Homo sapiens]
cytoplasmic tyrosine-protein kinase BMX isoform 1 [Homo sapiens]gi|42544182|ref|NP_975010.1|Protein
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Last Updated: Feb 28, 2024