Variant (rsID / SNP)
rs34386552
rs34386552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CP. Location: chromosome 3, position 148,930,310. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CPConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:148930310
- Cytoband
- 3q25.1
- HGVS
- NM_000096.4(CP):c.322C>T (p.His108Tyr)
- 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.