Variant (rsID / SNP)

rs387906730

rs387906730 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-ND1. Clinical significance in the table: Benign.

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Reference-table entries

MT-ND1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.3388C>A

Associated conditions / phenotypes

Mitochondrial non-syndromic sensorineural hearing loss|Leigh syndrome

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.