NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln) AND Intellectual disability, X-linked 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002301632.3
Allele description [Variation Report for NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)]
NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)
Condition(s)
- Name:
- Intellectual disability, X-linked 1 (XLID1)
- Synonyms:
- Mental retardation, X-linked, nonspecific; Atkin Flaitz Patil Smith syndrome; MENTAL RETARDATION, X-LINKED 18; See all synonyms [MedGen]
- Identifiers:
- Gene: 170530; MONDO: MONDO:0010656; MedGen: C2931498; Orphanet: 777; OMIM: 309530
Assertion and evidence details
Last Updated: May 19, 2024