NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu) AND Haddad syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000643953.7
Allele description [Variation Report for NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu)]
NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu)
Condition(s)
-
neural crest, Cut and Run, Pax7_3
neural crest, Cut and Run, Pax7_3biosample
-
SRX23938804 (1)
SRA
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Last Updated: Sep 29, 2024