Variant (rsID / SNP)

rs376722149

rs376722149 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS3. Location: chromosome 11, position 47,605,974. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NDUFS3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:47605974
Cytoband: 11p11.2
HGVS: NM_004551.3(NDUFS3):c.736C>T (p.Arg246Cys)
Allele change: Missense_R246C

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.