Variant (rsID / SNP)
rs34324219
rs34324219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TCN1. Location: chromosome 11, position 59,623,378. Clinical significance in the table: Benign.
Reference-table entries
TCN1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:59623378
- Cytoband
- 11q12.1
- HGVS
- NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr)
- Allele change
- Missense_D301Y
Associated conditions / phenotypes
Transcobalamin I deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.