NM_000310.4(PPT1):c.3G>A (p.Met1Ile) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000589397.5
Allele description [Variation Report for NM_000310.4(PPT1):c.3G>A (p.Met1Ile)]
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
Condition(s)
-
casein kinase II subunit beta-2 [Cucumis melo]
casein kinase II subunit beta-2 [Cucumis melo]gi|659093817|ref|XP_008447734.1|Protein
-
MASP1 MBL associated serine protease 1 [Homo sapiens]
MASP1 MBL associated serine protease 1 [Homo sapiens]Gene ID:5648Gene
-
Gene Links for GEO Profiles (Select 45787749) (1)
Gene
-
Related DataSets for GEO Profiles (Select 45803668) (1)
GEO DataSets
-
Comparison of Rho kinase inhibitor and atorvastatin effects on primary cell line...
Comparison of Rho kinase inhibitor and atorvastatin effects on primary cell linesAccession: GDS2987GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024