NM_001358451.3(ABHD18):c.-18+315C>G AND Neuronal ceroid lipofuscinosis 7
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000284780.14
Allele description [Variation Report for NM_001358451.3(ABHD18):c.-18+315C>G]
NM_001358451.3(ABHD18):c.-18+315C>G
Condition(s)
-
Compound Links for PMC (Select 46101) (1)
PubChem Compound
-
PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha [Homo sap...
PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha [Homo sapiens]Gene ID:5576Gene
-
PMC Links for Protein (Select 7705917) (8)
PMC
-
Mitochondrial complex I deficiency, nuclear type 39
Mitochondrial complex I deficiency, nuclear type 39MedGen
-
Related DataSets for GEO Profiles (Select 102481129) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: May 26, 2024