Variant (rsID / SNP)

rs147868237

rs147868237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RNF213. Location: chromosome 17, position 78,313,281. Clinical significance in the table: Benign.

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Reference-table entries

RNF213Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:78313281
Cytoband: 17q25.3
HGVS: NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys)
Allele change: Missense_T1705K

Associated conditions / phenotypes

Moyamoya disease 2

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.