NM_001111125.3(IQSEC2):c.2890-6G>A AND Intellectual disability, X-linked 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000647978.8
Allele description [Variation Report for NM_001111125.3(IQSEC2):c.2890-6G>A]
NM_001111125.3(IQSEC2):c.2890-6G>A
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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membrane-bound transcription factor site-1 protease preproprotein [Homo sapiens]
membrane-bound transcription factor site-1 protease preproprotein [Homo sapiens]gi|4506775|ref|NP_003782.1|Protein
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Homologene neighbors for GEO Profiles (Select 58880070) (0)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 58877827) (20)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: May 19, 2024