Variant (rsID / SNP)

rs515726184

rs515726184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RRM2B. Location: chromosome 8, position 103,238,212. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RRM2BLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 8:103238212
Cytoband: 8q22.3
HGVS: NM_015713.5(RRM2B):c.253_255del (p.Glu85del)

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 8a|RRM2B-related mitochondrial disease|Idiopathic camptocormia

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.