NM_016579.4(CD320):c.731C>T (p.Thr244Ile) AND Methylmalonic acidemia due to transcobalamin receptor defect
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003771876.3
Allele description [Variation Report for NM_016579.4(CD320):c.731C>T (p.Thr244Ile)]
NM_016579.4(CD320):c.731C>T (p.Thr244Ile)
Condition(s)
- Name:
- Methylmalonic acidemia due to transcobalamin receptor defect (MATR)
- Synonyms:
- METHYLMALONIC ACIDEMIA, TCblR TYPE; Methylmalonic aciduria due to transcobalamin receptor defect; METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
- Identifiers:
- MONDO: MONDO:0013341; MedGen: C4749905; Orphanet: 280183; OMIM: 613646
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Rhizobium anhuiense strain CCBAU 23242 16S ribosomal RNA gene, partial sequence
Rhizobium anhuiense strain CCBAU 23242 16S ribosomal RNA gene, partial sequencegi|386776424|gb|JQ585831.1|Nucleotide
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Rhizobium sp. CCBAU 33502 16S ribosomal RNA gene, partial sequence
Rhizobium sp. CCBAU 33502 16S ribosomal RNA gene, partial sequencegi|386776430|gb|JQ585837.1|Nucleotide
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Homo sapiens NEDD4 binding protein 2 like 2 (N4BP2L2), transcript variant 1, mRN...
Homo sapiens NEDD4 binding protein 2 like 2 (N4BP2L2), transcript variant 1, mRNAgi|2053457487|ref|NM_033111.5|Nucleotide
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uncharacterized protein LOC325231 [Danio rerio]
uncharacterized protein LOC325231 [Danio rerio]gi|157952192|ref|NP_001073417.2|Protein
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Last Updated: Oct 8, 2024