NM_000255.4(MMUT):c.29del (p.Leu10fs) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002499803.1
Allele description [Variation Report for NM_000255.4(MMUT):c.29del (p.Leu10fs)]
NM_000255.4(MMUT):c.29del (p.Leu10fs)
Condition(s)
-
Homo sapiens LIM homeobox transcription factor 1, alpha, mRNA (cDNA clone IMAGE:...
Homo sapiens LIM homeobox transcription factor 1, alpha, mRNA (cDNA clone IMAGE:40119207), complete cdsgi|111185588|gb|BC119744.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024