Variant (rsID / SNP)
rs386134124
rs386134124 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CP. Location: chromosome 3, position 148,927,974. Clinical significance in the table: Pathogenic.
Reference-table entries
CPPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:148927974
- Cytoband
- 3q25.1
- HGVS
- NM_000096.4(CP):c.587C>G (p.Pro196Arg)
- 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.