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Variant (rsID / SNP)

rs398124308

FOXRED1

rs398124308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXRED1. Location: chromosome 11, position 126,144,896. 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
Duplication
Chromosome / position
11:126144896
Cytoband
11q24.2
HGVS
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)

Associated conditions / phenotypes

Mitochondrial complex I deficiency|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 19

Public references

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