NM_178857.6(RP1L1):c.5794G>A (p.Glu1932Lys) AND Occult macular dystrophy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Mar 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001161794.4
Allele description [Variation Report for NM_178857.6(RP1L1):c.5794G>A (p.Glu1932Lys)]
NM_178857.6(RP1L1):c.5794G>A (p.Glu1932Lys)
Condition(s)
- Name:
- Occult macular dystrophy (OCMD)
- Synonyms:
- OMD; OCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO
- Identifiers:
- MONDO: MONDO:0013316; MedGen: C3150833; Orphanet: 247834; OMIM: 613587; Human Phenotype Ontology: HP:0030636
-
PREDICTED: Homo sapiens phosphatidylinositol glycan anchor biosynthesis class L ...
PREDICTED: Homo sapiens phosphatidylinositol glycan anchor biosynthesis class L (PIGL), transcript variant X10, mRNAgi|2462558869|ref|XM_054317844.1|Nucleotide
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Last Updated: Dec 24, 2023