Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs373075574

FOXRED1

rs373075574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXRED1. Location: chromosome 11, position 126,142,963. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FOXRED1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:126142963
Cytoband
11q24.2
HGVS
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)
Allele change
Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency|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.