NM_003923.3(FOXH1):c.-53G>A AND Holoprosencephaly sequence
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001163116.4
Allele description [Variation Report for NM_003923.3(FOXH1):c.-53G>A]
NM_003923.3(FOXH1):c.-53G>A
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: Apr 9, 2023