Variant (rsID / SNP)

rs482082

rs482082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI4. Location: chromosome 1, position 67,288,045. The table records no clinical significance for this variant.

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Reference-table entries

DNAI4Not classified

Variant type: missense_variant&splice_region_variant
Chromosome / position: 1:67288045
HGVS: NM_024763.5,c.2495G>A,p.Arg832Gln
Allele change: Missense_R832Q

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.