NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs) AND Intellectual disability, autosomal dominant 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001202586.2
Allele description [Variation Report for NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs)]
NM_006772.3(SYNGAP1):c.3587dup (p.Glu1197fs)
Condition(s)
-
Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), ...
Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), transcript variant 1, mRNAgi|1519314165|ref|NM_004599.4|Nucleotide
-
D4Mit100 DNA segment, Chr 4, Massachusetts Institute of Technology 100 [Mus musc...
D4Mit100 DNA segment, Chr 4, Massachusetts Institute of Technology 100 [Mus musculus]Gene ID:61003Gene
-
D4Mit100 AND (alive[prop]) (1)
Gene
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Last Updated: Sep 29, 2024