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Variant (rsID / SNP)

rs377459479

MRPS22

rs377459479 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRPS22. Location: chromosome 3, position 139,066,988. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MRPS22Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:139066988
Cytoband
3q23
HGVS
NM_020191.4(MRPS22):c.340-14T>A
Allele change
Silent

Associated conditions / phenotypes

Hypotonia with lactic acidemia and hyperammonemia

Public references

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