Variant (rsID / SNP)
rs121918226
rs121918226 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEC23B. Location: chromosome 20, position 18,505,624. Clinical significance in the table: Pathogenic.
Reference-table entries
SEC23BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:18505624
- Cytoband
- 20p11.23
- HGVS
- NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)
- Allele change
- Nonsense_R199X
Associated conditions / phenotypes
Congenital dyserythropoietic anemia, type II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.