NM_001111125.3(IQSEC2):c.4390T>C (p.Ser1464Pro) AND Intellectual disability, X-linked 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001909054.5
Allele description [Variation Report for NM_001111125.3(IQSEC2):c.4390T>C (p.Ser1464Pro)]
NM_001111125.3(IQSEC2):c.4390T>C (p.Ser1464Pro)
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
-
CNTNAP3P1 CNTNAP3 pseudogene 1 [Homo sapiens]
CNTNAP3P1 CNTNAP3 pseudogene 1 [Homo sapiens]Gene ID:100420787Gene
-
Gene Links for Nucleotide (Select 302486489) (1)
Gene
-
DsbA family protein, partial [Propionibacterium freudenreichii]
DsbA family protein, partial [Propionibacterium freudenreichii]gi|2303665294|ref|WP_260265970.1|Protein
-
Tbxa2r thromboxane A2 receptor [Rattus norvegicus]
Tbxa2r thromboxane A2 receptor [Rattus norvegicus]Gene ID:24816Gene
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Last Updated: May 19, 2024