Variant (rsID / SNP)

rs189569196

rs189569196 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POGLUT1. Location: chromosome 3, position 119,198,989. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POGLUT1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:119198989
Cytoband: 3q13.33
HGVS: NM_152305.3(POGLUT1):c.548G>A (p.Arg183Gln)
Allele change: Missense_R183Q

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.