Variant (rsID / SNP)

rs140280672

rs140280672 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RANBP2. Location: chromosome 2, position 109,384,494. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RANBP2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:109384494
Cytoband: 2q13
HGVS: NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile)
Allele change: Missense_T2500I

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.