NM_001376.5(DYNC1H1):c.1688G>C (p.Arg563Pro) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001310721.20
Allele description [Variation Report for NM_001376.5(DYNC1H1):c.1688G>C (p.Arg563Pro)]
NM_001376.5(DYNC1H1):c.1688G>C (p.Arg563Pro)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
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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Last Updated: Aug 4, 2024