NM_001062.4(TCN1):c.160G>A (p.Ala54Thr) AND Transcobalamin I deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003062667.2
Allele description [Variation Report for NM_001062.4(TCN1):c.160G>A (p.Ala54Thr)]
NM_001062.4(TCN1):c.160G>A (p.Ala54Thr)
Condition(s)
- Name:
- Transcobalamin I deficiency (TCN1D)
- Synonyms:
- Transcobalamin 1 deficiency; TCN1 deficiency; Cobalamin pseudodeficiency due to transcobalamin deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008659; MedGen: C0342700; OMIM: 193090
Assertion and evidence details
Last Updated: May 1, 2024