NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg) AND Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001730152.1
Allele description [Variation Report for NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg)]
NM_001382241.1(TNPO2):c.83A>G (p.Gln28Arg)
Condition(s)
Assertion and evidence details
Last Updated: May 19, 2024