NM_015506.3(MMACHC):c.282C>T (p.Leu94=) AND Cobalamin C disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000983335.8
Allele description [Variation Report for NM_015506.3(MMACHC):c.282C>T (p.Leu94=)]
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)
Condition(s)
- Name:
- Cobalamin C disease
- Synonyms:
- Cobalamin-C methylmalonic acidemia and homocystinuria; Methylmalonic acidemia and homocystinuria cblC type; Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010184; MedGen: C1848561; Orphanet: 26; Orphanet: 79282; OMIM: 277400
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Drosophila melanogaster uncharacterized protein, transcript variant B (CG14109),...
Drosophila melanogaster uncharacterized protein, transcript variant B (CG14109), mRNAgi|442632125|ref|NM_001274871.1|Nucleotide
-
Homo sapiens hypothetical protein BC009489 (LOC92979), mRNA
Homo sapiens hypothetical protein BC009489 (LOC92979), mRNAgi|19923922|ref|NM_138396.1|Nucleotide
-
Odontobutis platycephala 12S ribosomal RNA gene, partial sequence; mitochondrial
Odontobutis platycephala 12S ribosomal RNA gene, partial sequence; mitochondrialgi|669636487|gb|KM030426.1|Nucleotide
-
spike glycoprotein [Betacoronavirus sp.]
spike glycoprotein [Betacoronavirus sp.]gi|1510286897|gb|AYR18625.1|Protein
-
Homo sapiens membrane-associated ring finger (C3HC4) 9, mRNA (cDNA clone MGC:333...
Homo sapiens membrane-associated ring finger (C3HC4) 9, mRNA (cDNA clone MGC:33387 IMAGE:4811410), complete cdsgi|34193457|gb|BC036455.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024