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Variant (rsID / SNP)

rs119484086

ELAC2

rs119484086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELAC2. Location: chromosome 17, position 12,896,274. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ELAC2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:12896274
Cytoband
17p12
HGVS
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
Allele change
Missense_R780H

Associated conditions / phenotypes

Prostate cancer, hereditary, 2|Combined oxidative phosphorylation defect type 17

Public references

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