Variant (rsID / SNP)

rs5030739

rs5030739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELAC2. Location: chromosome 17, position 12,899,902. 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: 17:12899902
Cytoband: 17p12
HGVS: NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
Allele change: Missense_A540T

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.