NM_003924.4(PHOX2B):c.581G>A (p.Ser194Asn) AND Haddad syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003039756.3
Allele description [Variation Report for NM_003924.4(PHOX2B):c.581G>A (p.Ser194Asn)]
NM_003924.4(PHOX2B):c.581G>A (p.Ser194Asn)
Condition(s)
-
4-alpha-glucanotransferase [Chlamydia pneumoniae TW-183]
4-alpha-glucanotransferase [Chlamydia pneumoniae TW-183]gi|33236180|gb|AAP98269.1||gnl|byk| 36Protein
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Last Updated: Sep 29, 2024