NM_003923.2(FOXH1):c.771C>A (p.Gly257=) AND Holoprosencephaly
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000297083.1
Allele description
NM_003923.2(FOXH1):c.771C>A (p.Gly257=)
Condition(s)
- Name:
- Holoprosencephaly
- Synonyms:
- Single brain ventricle
- Identifiers:
- MedGen: CN001246; Human Phenotype Ontology: HP:0001360
-
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See more...Assertion and evidence details
Last Updated: Jul 15, 2017