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Variant (rsID / SNP)

rs201160833

SEC23B

rs201160833 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEC23B. Location: chromosome 20, position 18,505,279. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SEC23BUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
20:18505279
Cytoband
20p11.23
HGVS
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)
Allele change
Missense_R172Q

Associated conditions / phenotypes

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