Variant (rsID / SNP)

rs201229537

rs201229537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MRPS2. Location: chromosome 9, position 138,395,428. Clinical significance in the table: Pathogenic.

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Reference-table entries

MRPS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:138395428
Cytoband: 9q34.3
HGVS: NM_016034.5(MRPS2):c.340G>A (p.Asp114Asn)
Allele change: Silent

Associated conditions / phenotypes

Combined oxidative phosphorylation deficiency 36

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.