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Variant (rsID / SNP)

rs12944088

RNF213

rs12944088 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNF213. Location: chromosome 17, position 78,357,478. The table records no clinical significance for this variant.

Reference-table entries

RNF213Not classified
Variant type
missense_variant&splice_region_variant
Chromosome / position
17:78357478
HGVS
NM_001256071.3,c.14072A>G,p.His4691Arg
Allele change
Missense_H4691R

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.