NM_139242.4(MTFMT):c.4A>G (p.Arg2Gly) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002248019.1
Allele description [Variation Report for NM_139242.4(MTFMT):c.4A>G (p.Arg2Gly)]
NM_139242.4(MTFMT):c.4A>G (p.Arg2Gly)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript ...
Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 9, mRNAgi|1890335031|ref|NM_001354383.2|Nucleotide
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Last Updated: Sep 29, 2024