Variant (rsID / SNP)
rs386134123
rs386134123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CP. Location: chromosome 3, position 148,928,013. Clinical significance in the table: Uncertain significance.
Reference-table entries
CPUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:148928013
- Cytoband
- 3q25.1
- HGVS
- NM_000096.4(CP):c.548T>C (p.Ile183Thr)
- Allele change
- Silent
Associated conditions / phenotypes
Deficiency of ferroxidase
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.