Variant (rsID / SNP)

rs2388981

rs2388981 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RESF1. Location: chromosome 12, position 32,134,207. The table records no clinical significance for this variant.

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Reference-table entries

RESF1Not classified

Variant type: missense_variant
Chromosome / position: 12:32134207
HGVS: NM_018169.4,c.318C>A,p.His106Gln
Allele change: Missense_H106Q

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.