NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu) AND CDK8-kinase module-associated disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 24, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000735245.2
Allele description [Variation Report for NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)]
NM_005121.3(MED13):c.6047C>T (p.Pro2016Leu)
Condition(s)
- Name:
- CDK8-kinase module-associated disorder
- Identifiers:
-
rho guanine nucleotide exchange factor 2 isoform 8 [Mus musculus]
rho guanine nucleotide exchange factor 2 isoform 8 [Mus musculus]gi|2697890079|ref|NP_001415424.1|Protein
-
RecName: Full=Ubiquilin-4; AltName: Full=Ataxin-1 interacting ubiquitin-like pro...
RecName: Full=Ubiquilin-4; AltName: Full=Ataxin-1 interacting ubiquitin-like protein; Short=A1Up; AltName: Full=Ataxin-1 ubiquitin-like-interacting protein A1U; AltName: Full=Connexin43-interacting protein of 75 kDa; Short=CIP75gi|45476969|sp|Q99NB8.1|UBQL4_MOUSEProtein
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Last Updated: Feb 4, 2024