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Variant (rsID / SNP)

rs115177758

SEC23B

rs115177758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEC23B. Location: chromosome 20, position 18,506,558. Clinical significance in the table: Benign.

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Reference-table entries

SEC23BBenign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
20:18506558
Cytoband
20p11.23
HGVS
NM_006363.6(SEC23B):c.816T>C (p.Ile272=)
Allele change
Synonymous_I254I

Associated conditions / phenotypes

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

Public references

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