NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys) AND Rauch-Steindl syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003227533.8
Allele description [Variation Report for NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys)]
NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys)
Condition(s)
Assertion and evidence details
Last Updated: May 26, 2024