NM_018006.5(TRMU):c.673G>A (p.Gly225Arg) AND Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 19, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001827466.1
Allele description [Variation Report for NM_018006.5(TRMU):c.673G>A (p.Gly225Arg)]
NM_018006.5(TRMU):c.673G>A (p.Gly225Arg)
Condition(s)
-
Mus musculus ribosomal protein S3a (Rps3a), mRNA
Mus musculus ribosomal protein S3a (Rps3a), mRNAgi|31980668|ref|NM_016959.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023