NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) AND PLA2G6-associated neurodegeneration
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001150736.4
Allele description [Variation Report for NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)]
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)
Condition(s)
-
alpha-2,8-sialyltransferase 8E isoform 2 [Homo sapiens]
alpha-2,8-sialyltransferase 8E isoform 2 [Homo sapiens]gi|28373101|ref|NP_037437.2|Protein
-
Danio rerio
Danio rerioControl of progenitor cell positioning and organ patterning during embryogenesisBioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024