Variant (rsID / SNP)

rs104894884

rs104894884 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA1. Clinical significance in the table: Pathogenic.

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Reference-table entries

NDUFA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq24
HGVS: NM_004541.4(NDUFA1):c.22G>C (p.Gly8Arg)
Allele change: Missense_G8R

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 12

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.