Variant (rsID / SNP)

rs147247708

rs147247708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UPK3A. Location: chromosome 22, position 45,689,118. Clinical significance in the table: Likely benign.

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Reference-table entries

UPK3ALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 22:45689118
Cytoband: 22q13.31
HGVS: NM_006953.4(UPK3A):c.628G>A (p.Val210Ile)
Allele change: Missense_V210I

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.