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Variant (rsID / SNP)

rs138855624

VARS2

rs138855624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VARS2. Location: chromosome 6, position 30,892,215. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:30892215
Cytoband
6p21.33
HGVS
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys)
Allele change
Missense_R851C

Associated conditions / phenotypes

Combined oxidative phosphorylation defect type 20

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.