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Variant (rsID / SNP)

rs35244252

MPV17

rs35244252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MPV17. Location: chromosome 2, position 27,545,358. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MPV17Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:27545358
Cytoband
2p23.3
HGVS
NM_002437.5(MPV17):c.27G>T (p.Arg9=)
Allele change
Synonymous_R9R

Associated conditions / phenotypes

Navajo neurohepatopathy|Mitochondrial DNA depletion syndrome

Public references

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