Variant (rsID / SNP)

rs9394021

rs9394021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VARS2. Location: chromosome 6, position 30,893,127. Clinical significance in the table: Benign.

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Reference-table entries

VARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:30893127
Cytoband: 6p21.33
HGVS: NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln)
Allele change: Missense_R917Q

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 20

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.