Variant (rsID / SNP)

rs121918221

rs121918221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEC23B. Location: chromosome 20, position 18,496,339. Clinical significance in the table: Pathogenic.

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Reference-table entries

SEC23BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 20:18496339
Cytoband: 20p11.23
HGVS: NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)
Allele change: Missense_E109K

Associated conditions / phenotypes

Congenital dyserythropoietic anemia, type II|Cowden syndrome 7|Congenital dyserythropoietic anemia, type II

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.