Variant (rsID / SNP)

rs28372779

rs28372779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXRED1, SRPRA. Location: chromosome 11, position 126,139,110. 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: 11:126139110
Cytoband: 11q24.2
HGVS: NM_017547.4(FOXRED1):c.9G>A (p.Arg3=)
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1

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.