NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe) AND Holoprosencephaly sequence
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001316318.3
Allele description [Variation Report for NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe)]
NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe)
Condition(s)
- Name:
- Holoprosencephaly sequence (HPE)
- Synonyms:
- ARHINENCEPHALY; HOLOPROSENCEPHALY, FAMILIAL ALOBAR; HPE, FAMILIAL; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016296; MedGen: C0079541; Orphanet: 2162; OMIM: PS236100; Human Phenotype Ontology: HP:0001360
Assertion and evidence details
Last Updated: Feb 20, 2024