Variant (rsID / SNP)

rs189094454

rs189094454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDE6B-AS1, PDE6B. Location: chromosome 4, position 651,212. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDE6B-AS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 4:651212
Cytoband: 4p16.3
HGVS: NM_000283.4(PDE6B):c.1330C>T (p.Arg444Cys)
Allele change: Missense_R444C

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.