Variant (rsID / SNP)

rs752742151

rs752742151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIFM1. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AIFM1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)
Allele change: Missense_R151Q

Associated conditions / phenotypes

Severe X-linked mitochondrial encephalomyopathy|Combined oxidative phosphorylation deficiency|Charcot-Marie-Tooth Neuropathy X

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.