Variant (rsID / SNP)

rs202047755

rs202047755 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF6. Location: chromosome 8, position 96,060,708. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDUFAF6Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:96060708
Cytoband: 8q22.1
HGVS: NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=)
Allele change: Synonymous_F135F

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.