NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) AND Cobalamin C disease
- Germline classification:
- Uncertain significance (4 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000555947.6
Allele description [Variation Report for NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)]
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
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
-
Human DNA sequence from clone RP11-426P2 on chromosome 1, complete sequence
Human DNA sequence from clone RP11-426P2 on chromosome 1, complete sequencegi|18252288|emb|AL442223.13|Nucleotide
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Last Updated: Jun 9, 2024