Variant (rsID / SNP)

rs191604046

rs191604046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXRED1. Location: chromosome 11, position 126,144,865. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FOXRED1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:126144865
Cytoband: 11q24.2
HGVS: NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp)
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.