Variant (rsID / SNP)

rs2228375

rs2228375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NUP153. Location: chromosome 6, position 17,675,246. The table records no clinical significance for this variant.

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Reference-table entries

NUP153Not classified

Variant type: missense_variant
Chromosome / position: 6:17675246
HGVS: NM_001278209.2,c.742A>G,p.Ile248Val
Allele change: Missense_I248V

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.