Variant (rsID / SNP)

rs3738952

rs3738952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUL3. Location: chromosome 2, position 225,362,478. Clinical significance in the table: Benign.

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Reference-table entries

CUL3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:225362478
Cytoband: 2q36.2
HGVS: NM_003590.5(CUL3):c.1699G>A (p.Val567Ile)
Allele change: Missense_V573I

Associated conditions / phenotypes

Autosomal dominant pseudohypoaldosteronism type 1|Pseudohypoaldosteronism type 2E

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.