Variant (rsID / SNP)

rs187293972

rs187293972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CP. Location: chromosome 3, position 148,895,647. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CPUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:148895647
Cytoband: 3q24
HGVS: NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)
Allele change: Silent

Associated conditions / phenotypes

Deficiency of ferroxidase

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.