Variant (rsID / SNP)

rs201289242

rs201289242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFV1. Location: chromosome 11, position 67,377,936. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

NDUFV1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:67377936
Cytoband: 11q13.2
HGVS: NM_007103.4(NDUFV1):c.595C>T (p.Arg199Cys)
Allele change: Missense_R190C

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.