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Variant (rsID / SNP)

rs148346044

FOXRED1

rs148346044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXRED1. Location: chromosome 11, position 126,141,370. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FOXRED1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:126141370
Cytoband
11q24.2
HGVS
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln)
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1

Public references

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