Variant (rsID / SNP)

rs119478059

rs119478059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRPS22. Location: chromosome 3, position 139,069,025. Clinical significance in the table: Pathogenic.

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Reference-table entries

MRPS22Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:139069025
Cytoband: 3q23
HGVS: NM_020191.4(MRPS22):c.509G>A (p.Arg170His)
Allele change: Missense_R169H

Associated conditions / phenotypes

Hypotonia with lactic acidemia and hyperammonemia

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.