Variant (rsID / SNP)

rs147609981

rs147609981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UPK3A. Location: chromosome 22, position 45,684,998. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

UPK3ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:45684998
Cytoband: 22q13.31
HGVS: NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter)
Allele change: Nonsense_W182X

Associated conditions / phenotypes

Renal hypodysplasia/aplasia 1

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.