NM_022455.5(NSD1):c.6655del (p.Arg2219fs) AND Neurodevelopmental disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001374930.1
Allele description [Variation Report for NM_022455.5(NSD1):c.6655del (p.Arg2219fs)]
NM_022455.5(NSD1):c.6655del (p.Arg2219fs)
Condition(s)
- Name:
- Neurodevelopmental disorder
- Identifiers:
- MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926
-
gw null-2 -/- rep.2
gw null-2 -/- rep.2biosample
-
Control 3
Control 3biosample
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Last Updated: Dec 24, 2023