Variant (rsID / SNP)

rs28999710

rs28999710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RRM2B. Location: chromosome 8, position 103,238,260. Clinical significance in the table: Benign.

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Reference-table entries

RRM2BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:103238260
Cytoband: 8q22.3
HGVS: NM_015713.5(RRM2B):c.207C>T (p.Val69=)
Allele change: Synonymous_V141V

Associated conditions / phenotypes

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|Mitochondrial DNA depletion syndrome 8a

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.