Variant (rsID / SNP)
rs115552500
rs115552500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CP. Location: chromosome 3, position 148,901,300. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CPBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:148901300
- Cytoband
- 3q24
- HGVS
- NM_000096.4(CP):c.2378G>A (p.Arg793His)
- 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.