Variant (rsID / SNP)

rs145886643

rs145886643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RANBP2. Location: chromosome 2, position 109,384,749. Clinical significance in the table: Benign.

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Reference-table entries

RANBP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:109384749
Cytoband: 2q13
HGVS: NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr)
Allele change: Missense_I2585T

Associated conditions / phenotypes

Familial acute necrotizing encephalopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.