NM_003560.4(PLA2G6):c.1038C>T (p.Arg346=) AND Infantile neuroaxonal dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003616720.2
Allele description [Variation Report for NM_003560.4(PLA2G6):c.1038C>T (p.Arg346=)]
NM_003560.4(PLA2G6):c.1038C>T (p.Arg346=)
Condition(s)
-
junctional adhesion molecule C isoform 1 precursor [Homo sapiens]
junctional adhesion molecule C isoform 1 precursor [Homo sapiens]gi|328927055|ref|NP_116190.3|Protein
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Last Updated: Sep 29, 2024