Variant (rsID / SNP)
rs199939108
rs199939108 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEC23B. Location: chromosome 20, position 18,523,799. Clinical significance in the table: Pathogenic.
Reference-table entries
SEC23BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:18523799
- Cytoband
- 20p11.23
- HGVS
- NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)
- Allele change
- Nonsense_R532X
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.