Variant (rsID / SNP)

rs1801316

rs1801316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA1. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NDUFA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq24
HGVS: NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
Allele change: Missense_G32R

Associated conditions / phenotypes

Mitochondrial complex I deficiency|History of neurodevelopmental disorder|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.