NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del) AND Haddad syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000538069.11
Allele description [Variation Report for NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del)]
NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del)
Condition(s)
-
maleylacetoacetate isomerase isoform 2 [Homo sapiens]
maleylacetoacetate isomerase isoform 2 [Homo sapiens]gi|194440732|ref|NP_665878.2|Protein
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Last Updated: Sep 29, 2024