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Variant (rsID / SNP)

rs117510230

MRPS16

rs117510230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRPS16. Location: chromosome 10, position 75,010,635. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MRPS16Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:75010635
Cytoband
10q22.2
HGVS
NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg)
Allele change
Silent

Public references

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