Variant (rsID / SNP)

rs780144498

rs780144498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFB9. Location: chromosome 8, position 125,562,123. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFB9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:125562123
Cytoband: 8q24.13
HGVS: NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln)
Allele change: Missense_R166Q

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.