NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr) AND Sotos syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 8, 2013
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000146849.1
Allele description
NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Dec 6, 2019