Variant (rsID / SNP)

rs104894270

rs104894270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS3. Location: chromosome 11, position 47,603,988. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NDUFS3Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:47603988
Cytoband: 11p11.2
HGVS: NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp)
Allele change: Missense_R199W

Associated conditions / phenotypes

Mitochondrial complex 1 deficiency, nuclear type 8

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.