NM_007327.4(GRIN1):c.303C>T (p.His101=) AND Intellectual disability, autosomal dominant 8
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001431310.7
Allele description [Variation Report for NM_007327.4(GRIN1):c.303C>T (p.His101=)]
NM_007327.4(GRIN1):c.303C>T (p.His101=)
Condition(s)
-
RecName: Full=ARF GTPase-activating protein GIT2; Short=ARF GAP GIT2; AltName: F...
RecName: Full=ARF GTPase-activating protein GIT2; Short=ARF GAP GIT2; AltName: Full=Cool-interacting tyrosine-phosphorylated protein 2; Short=CAT-2; Short=CAT2; AltName: Full=G protein-coupled receptor kinase-interactor 2; AltName: Full=GRK-interacting protein 2gi|341940748|sp|Q9JLQ2.2|GIT2_MOUSEProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024