Variant (rsID / SNP)

rs139690694

rs139690694 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS1. Location: chromosome 2, position 207,007,482. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NDUFS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:207007482
Cytoband: 2q33.3
HGVS: NM_005006.7(NDUFS1):c.1061T>A (p.Leu354His)
Allele change: Missense_L354H

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.