NM_025114.4(CEP290):c.5677G>A (p.Glu1893Lys) AND CEP290-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004544183.2
Allele description [Variation Report for NM_025114.4(CEP290):c.5677G>A (p.Glu1893Lys)]
NM_025114.4(CEP290):c.5677G>A (p.Glu1893Lys)
Condition(s)
- Name:
- CEP290-related disorder
- Synonyms:
- CEP290-Related Disorders; CEP290-related condition
- Identifiers:
- MedGen: CN239314
-
hypothetical protein BS17DRAFT_690063 [Gyrodon lividus]
hypothetical protein BS17DRAFT_690063 [Gyrodon lividus]gi|1933156269|gb|KAF9229851.1||gnl| IOO|BS17DRAFT_690063Protein
-
Homo sapiens ZFP36 ring finger protein like 1 (ZFP36L1), transcript variant 3, m...
Homo sapiens ZFP36 ring finger protein like 1 (ZFP36L1), transcript variant 3, mRNAgi|347659012|ref|NM_001244701.1|Nucleotide
-
Homologene neighbors for GEO Profiles (Select 121056997) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 132136246) (0)
GEO Profiles
-
Homologene neighbors for GEO Profiles (Select 132094301) (0)
GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024