Variant (rsID / SNP)

rs11809423

rs11809423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIVEP3. Location: chromosome 1, position 41,976,529. Clinical significance in the table: Benign.

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Reference-table entries

HIVEP3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:41976529
Cytoband: 1p34.2
HGVS: NM_024503.5(HIVEP3):c.6814G>A (p.Gly2272Arg)
Allele change: Missense_G2271R

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.