Variant (rsID / SNP)
rs112835359
rs112835359 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RANBP2. Location: chromosome 2, position 109,380,358. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RANBP2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:109380358
- Cytoband
- 2q13
- HGVS
- NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)
- Allele change
- Missense_K1121N
Associated conditions / phenotypes
Familial acute necrotizing encephalopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
