Variant (rsID / SNP)

rs149733287

rs149733287 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ELAC2. Location: chromosome 17, position 12,915,101. 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: 17:12915101
Cytoband: 17p12
HGVS: NM_018127.7(ELAC2):c.560-2A>G
Allele change: Silent

Associated conditions / phenotypes

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.