NM_003560.4(PLA2G6):c.916C>T (p.Arg306Trp) AND Infantile neuroaxonal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002023201.3
Allele description [Variation Report for NM_003560.4(PLA2G6):c.916C>T (p.Arg306Trp)]
NM_003560.4(PLA2G6):c.916C>T (p.Arg306Trp)
Condition(s)
-
Fanconi anemia core complex-associated protein 20 isoform a [Mus musculus]
Fanconi anemia core complex-associated protein 20 isoform a [Mus musculus]gi|299522750|ref|NP_001177374.1|Protein
-
putative methyl-CpG-binding domain protein 3-like 3 [Homo sapiens]
putative methyl-CpG-binding domain protein 3-like 3 [Homo sapiens]gi|256574745|ref|NP_001157897.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024