Variant (rsID / SNP)

rs207460004

rs207460004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-CYB. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MT-CYBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.14849T>C

Associated conditions / phenotypes

Exercise intolerance, cardiomyopathy, and septooptic dysplasia|Leigh syndrome|Mitochondrial disease

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.