Variant (rsID / SNP)

rs2228220

rs2228220 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HIVEP1. Location: chromosome 6, position 12,123,249. Clinical significance in the table: Benign.

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Reference-table entries

HIVEP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:12123249
Cytoband: 6p24.1
HGVS: NM_002114.4(HIVEP1):c.3221A>G (p.Asn1074Ser)
Allele change: Missense_N1074S

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.