NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) AND Intellectual disability, X-linked 101
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000133396.4
Allele description [Variation Report for NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)]
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023