Variant (rsID / SNP)

rs36023150

rs36023150 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SEC23B. Location: chromosome 20, position 18,505,200. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SEC23BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 20:18505200
Cytoband: 20p11.23
HGVS: NM_006363.6(SEC23B):c.490G>T (p.Val164Leu)
Allele change: Missense_V146L

Associated conditions / phenotypes

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

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.