Variant (rsID / SNP)

rs145122315

rs145122315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF1. Location: chromosome 15, position 41,679,771. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFAF1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:41679771
Cytoband: 15q15.1
HGVS: NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=)
Allele change: Silent

Associated conditions / phenotypes

Mitochondrial complex I deficiency, nuclear type 1

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.