Variant (rsID / SNP)

rs267606830

rs267606830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXRED1. Location: chromosome 11, position 126,147,412. Clinical significance in the table: Pathogenic.

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Reference-table entries

FOXRED1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:126147412
Cytoband: 11q24.2
HGVS: NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser)
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 19

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.