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Variant (rsID / SNP)

rs143417446

MGME1

rs143417446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MGME1. Location: chromosome 20, position 17,956,347. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MGME1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
20:17956347
Cytoband
20p11.23
HGVS
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)
Allele change
Missense_R193W

Associated conditions / phenotypes

Mitochondrial DNA depletion syndrome 11

Public references

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