NM_000078.3(CETP):c.940G>A (p.Glu314Lys) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Aug 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000730700.12
Allele description [Variation Report for NM_000078.3(CETP):c.940G>A (p.Glu314Lys)]
NM_000078.3(CETP):c.940G>A (p.Glu314Lys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Component(Core) Links for Nucleotide (Select 1519314124) (2)
Nucleotide
-
Microbe sample from Vibrio cyclitrophicus
Microbe sample from Vibrio cyclitrophicusbiosample
-
ACTA1 actin alpha 1, skeletal muscle [Bos taurus]
ACTA1 actin alpha 1, skeletal muscle [Bos taurus]Gene ID:281592Gene
-
Concise Conserved Domain Links for Protein (Select 1034574183) (2)
Conserved Domains
-
Profile neighbors for GEO Profiles (Select 77478552) (200)
GEO Profiles
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Last Updated: Feb 20, 2024