Annotation Detail
Information
- Associated Genes
- TCN2
- Associated Variants
-
TCN2 p.Ser348Phe (p.S348F)
(
ENST00000215838.8,
ENST00000405742.7,
ENST00000407817.3,
ENST00000450638.5,
ENST00000698263.1,
ENST00000698265.1,
ENST00000698266.1,
ENST00000698268.1,
ENST00000698270.1,
ENST00000698271.1,
ENST00000698272.1,
ENST00000698273.1 )
TCN2 p.Ser348Phe (p.S348F) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 ) - Associated Disease
- transcobalamin II deficiency
- Source Database
- ClinVar
- Description
- NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) AND Transcobalamin II deficiency
- ClinVar Allele ID
- 351366
- ClinVar RefSeq Alternation Syntax
- NM_001184726.2:c.962C>T
- ClinVar RefSeq Alternation Syntax
- NM_000355.4:c.1043C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000301606
- ClinVar Disease
- Transcobalamin II deficiency
- Observed Origin Sample
- germline
Drugs