NM_000261.2(MYOC):c.992C>T (p.Ser331Leu) AND Open-angle glaucoma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003233544.1
Allele description [Variation Report for NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)]
NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)
Condition(s)
- Name:
- Open-angle glaucoma
- Identifiers:
- MONDO: MONDO:0005338; MedGen: C0017612; Human Phenotype Ontology: HP:0012108
-
Homo sapiens cyclin D binding myb like transcription factor 1 (DMTF1), transcrip...
Homo sapiens cyclin D binding myb like transcription factor 1 (DMTF1), transcript variant 5, non-coding RNAgi|1890388901|ref|NR_024550.2|Nucleotide
-
hypothetical protein GXM19_09525 [Collinsella aerofaciens ATCC 25986]
hypothetical protein GXM19_09525 [Collinsella aerofaciens ATCC 25986]gi|1808690083|gnl|PRJNA603246|GXM19 5|gb|QIA34433.1|Protein
-
KCNK12 potassium two pore domain channel subfamily K member 12 [Homo sapiens]
KCNK12 potassium two pore domain channel subfamily K member 12 [Homo sapiens]Gene ID:56660Gene
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Last Updated: Jun 24, 2023