NM_002454.2(MTRR):c.-119T>C AND Methylcobalamin deficiency type cblE
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001530449.10
Allele description [Variation Report for NM_002454.2(MTRR):c.-119T>C]
NM_002454.2(MTRR):c.-119T>C
Condition(s)
- Name:
- Methylcobalamin deficiency type cblE (HMAE)
- Synonyms:
- VITAMIN B12-RESPONSIVE HOMOCYSTINURIA, cblE TYPE; Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
- Identifiers:
- MONDO: MONDO:0009354; MedGen: C1856057; Orphanet: 2169; Orphanet: 622; OMIM: 236270
-
PREDICTED: Rattus norvegicus HtrA serine peptidase 2 (Htra2), transcript variant...
PREDICTED: Rattus norvegicus HtrA serine peptidase 2 (Htra2), transcript variant X2, mRNAgi|2678936876|ref|XM_063285788.1|Nucleotide
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Last Updated: Sep 29, 2024