NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) AND Infantile cortical hyperostosis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000309975.13
Allele description [Variation Report for NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)]
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024