Variant (rsID / SNP)

rs2166807

rs2166807 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RESF1. Location: chromosome 12, position 32,134,638. The table records no clinical significance for this variant.

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Reference-table entries

RESF1Not classified

Variant type: missense_variant
Chromosome / position: 12:32134638
HGVS: NM_018169.4,c.749T>C,p.Leu250Pro
Allele change: Missense_L250P

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.