Variant (rsID / SNP)

rs119484087

rs119484087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELAC2. Location: chromosome 17, position 12,898,323. Clinical significance in the table: Benign.

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Reference-table entries

ELAC2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:12898323
Cytoband: 17p12
HGVS: NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val)
Allele change: Missense_E621V

Associated conditions / phenotypes

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

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.