NM_000255.4(MMUT):c.29dup (p.Leu10fs) AND Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001829849.1
Allele description [Variation Report for NM_000255.4(MMUT):c.29dup (p.Leu10fs)]
NM_000255.4(MMUT):c.29dup (p.Leu10fs)
Condition(s)
- Name:
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
- Identifiers:
-
lysozyme [Shewanella sp. phage 1/4]
lysozyme [Shewanella sp. phage 1/4]gi|587757407|gb|AHK11139.1|Protein
-
secretion activator protein [Brucella melitensis bv. 1 str. 16M]
secretion activator protein [Brucella melitensis bv. 1 str. 16M]gi|17982956|gb|AAL52176.1||gnl|inte BMEI0995Protein
-
Gm17198 predicted gene 17198 [Mus musculus]
Gm17198 predicted gene 17198 [Mus musculus]Gene ID:100418376Gene
-
FROZEN_90 [Erwinia phage vB_EamP_Frozen]
FROZEN_90 [Erwinia phage vB_EamP_Frozen]Gene ID:29065853Gene
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Last Updated: Oct 8, 2024