Variant (rsID / SNP)

rs587777042

rs587777042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYC1. Location: chromosome 8, position 145,151,518. Clinical significance in the table: Pathogenic.

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Reference-table entries

CYC1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:145151518
Cytoband: 8q24.3
HGVS: NM_001916.5(CYC1):c.643C>T (p.Leu215Phe)
Allele change: Missense_L215F

Associated conditions / phenotypes

Mitochondrial complex III deficiency nuclear type 6

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.