NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr) AND Intellectual disability, X-linked 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003989052.2
Allele description [Variation Report for NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)]
NM_001111125.3(IQSEC2):c.4387G>A (p.Ala1463Thr)
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
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C2674574[trait identifier] AND "Neuberg Centre For Genomic Medici... (1)
C2674574[trait identifier] AND "Neuberg Centre For Genomic Medicine, NCGM"[submitter]SearchClinVar
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Last Updated: May 19, 2024