NM_004429.5(EFNB1):c.472A>G (p.Met158Val) AND Craniofrontonasal syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 8, 2004
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000012477.22
Allele description [Variation Report for NM_004429.5(EFNB1):c.472A>G (p.Met158Val)]
NM_004429.5(EFNB1):c.472A>G (p.Met158Val)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022