NM_000261.2(MYOC):c.1110G>A (p.Pro370=) AND MYOC-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 24, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004540634.2
Allele description [Variation Report for NM_000261.2(MYOC):c.1110G>A (p.Pro370=)]
NM_000261.2(MYOC):c.1110G>A (p.Pro370=)
Condition(s)
- Name:
- MYOC-related disorder
- Synonyms:
- MYOC-Related Disorders; MYOC-related condition
- Identifiers:
- MedGen: CN239330
-
RecName: Full=Keratin, type II cytoskeletal 2 oral; AltName: Full=Cytokeratin-2P...
RecName: Full=Keratin, type II cytoskeletal 2 oral; AltName: Full=Cytokeratin-2P; Short=CK-2P; Short=K2P; AltName: Full=Keratin-76; Short=K76; AltName: Full=Type-II keratin Kb9gi|317373371|sp|Q01546.2|K22O_HUMANProtein
-
gcnt4a [Epinephelus lanceolatus]
gcnt4a [Epinephelus lanceolatus]Gene ID:117252985Gene
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Last Updated: Oct 20, 2024