Variant (rsID / SNP)

rs2301708

rs2301708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLHL3. Location: chromosome 5, position 136,969,793. Clinical significance in the table: Benign.

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Reference-table entries

KLHL3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 5:136969793
Cytoband: 5q31.2
HGVS: NM_017415.3(KLHL3):c.1383G>A (p.Glu461=)
Allele change: Synonymous_E379E

Associated conditions / phenotypes

Autosomal dominant pseudohypoaldosteronism type 1|Pseudohypoaldosteronism type 2D

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.